Roberto Giugliani

Q: What Schools Are Affiliated With Roberto Giugliani

Roberto Giugliani is affiliated with the following schools: Lutheran University of Brazil, Federal University of Rio Grande do Sul

Roberto Giugliani's AcademicInfluence.com Rankings

Roberto Giugliani

Biology

#9024

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#12180

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Genetics

#915

World Rank

#1011

Historical Rank

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Biology

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Roberto Giugliani's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (2006) (504)
Inborn Errors of Metabolism (1989) (364)
Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. (2006) (330)
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. (2016) (326)
Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome) (2008) (283)
Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey (2009) (271)
Management Guidelines for Mucopolysaccharidosis VI (2007) (234)
Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data (2009) (226)
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management (2011) (223)
Direct Comparison of Measures of Endurance, Mobility, and Joint Function During Enzyme-Replacement Therapy of Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): Results After 48 Weeks in a Phase 2 Open-Label Clinical Study of Recombinant Human N-Acetylgalactosamine 4-Sulfatase (2005) (200)
Primary renal hypoplasia in humans and mice with PAX2 mutations: evidence of increased apoptosis in fetal kidneys of Pax2(1Neu) +/- mutant mice. (2000) (200)
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. (2008) (198)
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. (2007) (186)
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome (2011) (177)
Genetics of homocysteine metabolism and associated disorders. (2010) (172)
Epidemiology of mucopolysaccharidoses. (2017) (170)
Multidisciplinary Management of Hunter Syndrome (2009) (167)
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study (2014) (167)
The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported (2006) (158)
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment (2010) (154)
Neurologic findings in Machado-Joseph disease: relation with disease duration, subtypes, and (CAG)n. (2001) (152)
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux–Lamy syndrome) (2005) (149)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Newborn screening and its relationship to the diagnosis and treatment of the disorder (1993) (148)
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat (2016) (144)
A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B (2008) (143)
Initial report from the Hunter Outcome Survey (2008) (141)
Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS) (2009) (130)
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. (2007) (129)
Clinical course of sly syndrome (mucopolysaccharidosis type VII) (2016) (128)
Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression (2008) (127)
A clinical study of 77 patients with mucopolysaccharidosis type II (2007) (126)
The natural history of MPS I: global perspectives from the MPS I Registry (2014) (124)
The Morquio A Clinical Assessment Program: baseline results illustrating progressive, multisystemic clinical impairments in Morquio A subjects. (2013) (121)
Respiratory and sleep disorders in mucopolysaccharidosis (2012) (119)
Mutational analysis of 105 mucopolysaccharidosis type VI patients (2007) (117)
Evidence that oxidative stress is increased in patients with X-linked adrenoleukodystrophy. (2004) (117)
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases. (2006) (115)
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI (2004) (113)
Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. (2008) (111)
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis (2015) (108)
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. (2006) (106)
Oxidative stress in patients with phenylketonuria. (2005) (106)
Selective screening of 10,000 high-risk Brazilian patients for the detection of inborn errors of metabolism (1997) (106)
Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy. (2012) (105)
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses (2005) (102)
A survey of spinocerebellar ataxia in South Brazil – 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease–causing mutations (2001) (99)
International Guidelines for the Management and Treatment of Morquio A Syndrome (2014) (98)
Newborn Screening for Congenital Infectious Diseases (2004) (96)
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase (2010) (93)
A randomized placebo-controlled phase 3 trial of an antisense oligonucleotide, drisapersen, in Duchenne muscular dystrophy (2018) (90)
Services for the Prevention and Management of Genetic Disorders and Birth Defects in Developing Countries (2000) (89)
Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry (2012) (88)
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies (2012) (88)
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial (2018) (88)
Genomic rearrangements in BRCA1 and BRCA2: A literature review (2009) (87)
Development and Testing of New Screening Method for Keratan Sulfate in Mucopolysaccharidosis IVA (2004) (84)
Investigation of lysosomal storage diseases in nonimmune hydrops fetalis (2004) (84)
Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey (2011) (84)
The role of enzyme replacement therapy in severe Hunter syndrome—an expert panel consensus (2011) (84)
Development of a bile acid–based newborn screen for Niemann-Pick disease type C (2016) (83)
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards. (1993) (82)
Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study (2014) (80)
Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. (2004) (79)
Therapies for the bone in mucopolysaccharidoses. (2015) (79)
Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. (2003) (78)
CNS involvement in Fabry disease: Clinical and imaging studies before and after 12 months of enzyme replacement therapy (2004) (77)
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases (2014) (76)
Mucopolysaccharidoses in Brazil: What happens from birth to biochemical diagnosis? (2008) (73)
Investigation of oxidative stress parameters in treated phenylketonuric patients (2006) (73)
A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects. (2013) (72)
Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. (2008) (72)
An international classification of inherited metabolic disorders (ICIMD) (2020) (71)
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial. (2015) (70)
Serum S100B protein is increased in fasting rats. (2006) (70)
Development and validation of a simple questionnaire for the identification of hereditary breast cancer in primary care (2009) (70)
Pregnancy outcome after exposure to misoprostol in Brazil: a prospective, controlled study. (1999) (69)
Understanding the natural history of Gaucher disease (2015) (69)
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses (2005) (68)
Hematopoietic Stem Cell Transplantation for Patients with Mucopolysaccharidosis II. (2017) (67)
Mucopolysacccharidoses: From understanding to treatment, a century of discoveries (2012) (66)
Correlation of MR Imaging and MR Spectroscopy Findings with Cognitive Impairment in Mucopolysaccharidosis II (2007) (65)
Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. (2016) (65)
Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review (2010) (65)
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey (2010) (63)
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. (2010) (63)
The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population. (2006) (62)
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy (2012) (62)
Establishment of Glycosaminoglycan Assays for Mucopolysaccharidoses (2014) (62)
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis. (2010) (62)
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency (2017) (62)
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP) (2013) (61)
Triagem neonatal de distúrbios metabólicos (2002) (61)
3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats (2005) (61)
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. (2009) (61)
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome (2015) (61)
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry (2017) (60)
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. (2016) (60)
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher and with Niemann-Pick diseases. (2004) (60)
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls (2012) (59)
Newborn Screening for Pompe Disease (2017) (58)
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. (2013) (56)
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy. (2015) (56)
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. (2015) (56)
Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience. (2009) (56)
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study (2019) (55)
In vivo genome editing of mucopolysaccharidosis I mice using the CRISPR/Cas9 system (2018) (54)
Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey (2010) (53)
Brain MRI in mucopolysaccharidosis (2007) (52)
Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. (2018) (51)
Treatment of brain disease in the mucopolysaccharidoses. (2017) (50)
The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). (2013) (50)
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations. (2004) (48)
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate (2004) (48)
Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance (2019) (48)
Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome. (2016) (48)
Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey. (2011) (47)
Fabry Disease in Hemodialysis Patients in Southern Brazil: Prevalence Study and Clinical Report (2008) (46)
A multinational, multidisciplinary consensus for the diagnosis and management of spinal cord compression among patients with mucopolysaccharidosis VI. (2012) (45)
Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy. (2011) (45)
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry (2019) (44)
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America (2014) (44)
Six novel β‐galactosidase gene mutations in Brazilian patients with GM1‐gangliosidosis (1999) (43)
Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry (2017) (43)
Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients. (2014) (43)
Genetic causes of intellectual disability in a birth cohort: A population‐based study (2015) (42)
Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples. (2011) (42)
Emerging drugs for the treatment of mucopolysaccharidoses (2016) (41)
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series (2014) (41)
Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS) (2017) (41)
Induction of lipid peroxidation and decrease of antioxidant defenses in symptomatic and asymptomatic patients with X-linked adrenoleukodystrophy (2007) (41)
Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. (2011) (40)
Triagem neonatal para hemoglobinopatias: um estudo piloto em Porto Alegre, Rio Grande do Sul, Brasil (2002) (40)
Non‐immune hydrops fetalis: A prospective study of 53 cases (2013) (40)
Long-term outcomes of systemic therapies for Hurler syndrome: an international multi-center comparison (2018) (40)
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) (2018) (39)
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7 years follow-up (2017) (39)
Lysosomal diseases: Overview on current diagnosis and treatment (2019) (39)
Machado–Joseph disease in South Brazil: clinical and molecular characterization of kindreds (2001) (39)
Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome (2011) (39)
Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. (2012) (39)
White matter lesions in Fabry disease before and after enzyme replacement therapy: a 2-year follow-up. (2006) (39)
Chondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII. (2015) (38)
Expert recommendations for the laboratory diagnosis of MPS VI. (2012) (38)
Impairment of Body Growth in Mucopolysaccharidoses (2012) (38)
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients (2013) (37)
Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome. (2015) (36)
Very low levels of high density lipoprotein cholesterol in four sibs of a family with non-neuropathic Niemann-Pick disease and sea-blue histiocytosis. (1990) (36)
CFTR gene: molecular analysis in patients from South Brazil. (2003) (36)
Diagnostic and treatment strategies in mucopolysaccharidosis VI (2015) (36)
Enzyme Replacement Therapy in Mucopolysaccharidosis II Patients Under 1 Year of Age. (2014) (36)
Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil. (2004) (35)
Functional capacity evaluation of patients with mucopolysaccharidosis. (2012) (35)
Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB. (2015) (34)
Molecular characterization of phenylketonuria in South Brazil. (2003) (33)
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength. (2008) (33)
Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI (2011) (33)
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). (1999) (33)
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (2021) (33)
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure. (2017) (32)
Searching for modulating effects of SCA2, SCA6 and DRPLA CAG tracts on the Machado‐Joseph disease (SCA3) phenotype (2003) (32)
Gene editing of MPS I human fibroblasts by co‐delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers (2018) (32)
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses. (2017) (32)
Geographic heterogeneity of 4 common worldwide cystic fibrosis non-DF508 mutations in Brazil. (1999) (32)
Nerve conduction studies, electromyography and sympathetic skin response in Fabry's disease (2003) (31)
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients (2005) (31)
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses. (2014) (31)
Existe uma associação entre mortalidade por câncer e uso de agrotóxicos?: Uma contribuição ao debate (2010) (31)
A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy (2013) (30)
A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity (2014) (30)
Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I (2015) (30)
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS). (2013) (30)
The Brazilian consensus on the management of Pompe disease. (2009) (30)
Maple syrup urine disease in treated patients: biochemical and oxidative stress profiles. (2008) (30)
Newborn screening for lysosomal diseases: current status and potential interface with population medical genetics in Latin America (2012) (30)
Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. (2007) (30)
S100B content and SOD activity in amniotic fluid of pregnancies with Down syndrome. (2004) (30)
Some observations on genetic factors in urolithiasis. (1981) (30)
Prevalence of G6PD deficiency in newborns in the south of Brazil (2006) (30)
Worldwide distribution of common IDUA pathogenic variants (2018) (30)
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory (2017) (30)
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I (2018) (30)
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance (2019) (29)
Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice (2012) (29)
Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations (2000) (29)
Ontogenetic changes in serum S100B in Down syndrome patients. (2005) (29)
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses. (2000) (29)
Pyridoxine-dependent seizures associated with white matter abnormalities. (1994) (29)
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model (2005) (28)
Universal newborn screening: A roadmap for action. (2018) (28)
Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma (2015) (28)
Interleukin-15 Favors the Expansion of Central Memory CD8+ T Cells in Ex Vivo Generated, Antileukemia Human Cytotoxic T Lymphocyte Lines (2008) (28)
Protracted course of Krabbe disease in an adult patient bearing a novel mutation. (1999) (28)
Clinical Characterization and Risk Profile of Individuals Seeking Genetic Counseling for Hereditary Breast Cancer in Brazil (2007) (28)
Hexacosanoic and docosanoic acids plasma levels in patients with cerebral childhood and asymptomatic X-linked adrenoleukodystrophy: Lorenzo’s oil effect (2008) (28)
Adult derived mononuclear bone marrow cells improve survival in a model of acetaminophen-induced acute liver failure in rats. (2008) (28)
Neurological manifestations of lysosomal disorders and emerging therapies targeting the CNS. (2018) (28)
Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome (2017) (27)
Long‐term survival outcomes of patients with Niemann‐Pick disease type C receiving miglustat treatment: A large retrospective observational study (2020) (26)
Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years (2016) (26)
DNA damage in Fabry patients: An investigation of oxidative damage and repair. (2015) (26)
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil (2017) (26)
Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy (2008) (26)
Cathepsin B inhibition attenuates cardiovascular pathology in mucopolysaccharidosis I mice (2018) (26)
Pathogenesis of lumbar spine disease in mucopolysaccharidosis VII. (2012) (26)
Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation. (2016) (26)
Amino acids levels and lipid peroxidation in maple syrup urine disease patients. (2009) (26)
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. (2013) (25)
Diagnosis of Mucopolysaccharidoses (2020) (25)
Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study. (2017) (25)
Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial. (2020) (25)
Identification of a novel mutation in the ARSB gene that is frequent among Brazilian MPSVI patients. (2003) (25)
The effect of Lorenzo's oil on oxidative stress in X-linked adrenoleukodystrophy (2006) (25)
Prospective study of 11 Brazilian patients with mucopolysaccharidosis II. (2006) (25)
Biomolecules damage and redox status abnormalities in Fabry patients before and during enzyme replacement therapy. (2016) (25)
Extended use of a selective inhibitor of acid lipase for the diagnosis of Wolman disease and cholesteryl ester storage disease. (2014) (24)
Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome (2016) (24)
High frequency of type 1 GM1 gangliosidosis in southern Brazil (1999) (24)
DNA damage in leukocytes from pretreatment mucopolysaccharidosis type II patients; protective effect of enzyme replacement therapy. (2011) (24)
Selective screening for lysosomal storage diseases with dried blood spots collected on filter paper in 4,700 high-risk colombian subjects. (2013) (24)
Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. (2013) (24)
Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa (2017) (24)
Glycosidase active site mutations in human α-L-iduronidase (2001) (24)
Brain magnetic resonance imaging findings in patients with mucopolysaccharidosis VI (2013) (24)
Magnetic resonance imaging findings in Hunter syndrome (2008) (24)
Spinocerebellar ataxias in 114 Brazilian families: clinical and molecular findings (2006) (24)
Recombinant Encapsulated Cells Overexpressing Alpha-L-Iduronidase Correct Enzyme Deficiency in Human Mucopolysaccharidosis Type I Cells (2011) (23)
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice (2019) (23)
Genome Editing: Potential Treatment for Lysosomal Storage Diseases (2015) (23)
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease (2006) (23)
Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil (2013) (23)
Age-Dependent Availability and Functionality of Bone Marrow Stem Cells in an Experimental Model of Acute and Chronic Myocardial Infarction (2011) (22)
Study on possible increase in twinning rate at a small village in south Brazil. (1996) (22)
Kidney Function and 24-Hour Proteinuria in Patients with Fabry Disease during 36 Months of Agalsidase Alfa Enzyme Replacement Therapy: A Brazilian Experience (2009) (22)
Mucopolysaccharidosis Type I (2020) (22)
The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil (2011) (22)
Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil (2009) (22)
Recent Advances in Treatment Approaches of Mucopolysaccharidosis VI. (2011) (22)
Evaluation of glucose-6-phosphate dehydrogenase stability in blood samples under different collection and storage conditions. (2005) (22)
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. (2014) (22)
Severity score system for progressive myelopathy: development and validation of a new clinical scale (2012) (21)
Consistency of self-reported first-degree family history of cancer in a population-based study (2009) (21)
Biochemical study on β-glucosidase in individuals with Gaucher's disease and normal subjects (2004) (21)
Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs. (2013) (21)
GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening. (2012) (21)
Clinical and biochemical study of 29 Brazilian patients with metachromatic leukodystrophy (2010) (20)
In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells (2008) (20)
Microarray-based comparative genomic hybridization analysis in neonates with congenital anomalies: detection of chromosomal imbalances. (2015) (20)
Cystic fibrosis in the Brazilian population: DF508 mutation and KM-19/XV-2C haplotype distribution. (1997) (20)
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes (2012) (19)
Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. (2018) (19)
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial (2018) (19)
A simple protocol for transfecting human mesenchymal stem cells (2018) (19)
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros (2010) (19)
Effects of cryopreservation and hypothermic storage on cell viability and enzyme activity in recombinant encapsulated cells overexpressing alpha-L-iduronidase. (2010) (19)
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders (2019) (19)
Enzyme replacement therapy for Mucopolysaccharidosis Type I among patients followed within the MPS Brazil Network (2013) (19)
Characterization of glycan substrates accumulating in GM1 Gangliosidosis (2019) (19)
Fabry disease: a new approach for the screening of females in high-risk groups. (2014) (19)
Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism (2016) (19)
Clinical and molecular characterization of patients at risk for hereditary melanoma in southern Brazil. (2008) (19)
Oxidative damage and redox in Lysosomal Storage Disorders: Biochemical markers. (2017) (19)
CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts. (2018) (18)
Retroviral-vector-mediated gene therapy to mucopolysaccharidosis I mice improves sensorimotor impairments and other behavioral deficits (2013) (18)
Characterization of joint disease in mucopolysaccharidosis type I mice (2013) (18)
Chloramphenicol enhances IDUA activity on fibroblasts from mucopolysaccharidosis I patients. (2013) (18)
Unique frequency of known mutations in Brazilian MPS I patients. (2000) (18)
An evaluation of four methods for the detection of heterozygous cystinuria. (1987) (18)
Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. (2000) (18)
Intraperitoneal implant of recombinant encapsulated cells overexpressing alpha-L-iduronidase partially corrects visceral pathology in mucopolysaccharidosis type I mice. (2012) (18)
Does geographical location influence the phenotype of Fabry disease in women in Europe? (2010) (18)
Maternal hyperphenylalaninaemia as a cause of microcephaly and mental retardation (1996) (18)
Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil (2016) (18)
[Enzyme replacement therapy for mucopolysaccharidoses I, II and VI: recommendations from a group of Brazilian F experts]. (2010) (18)
Shotgun proteomics reveals possible mechanisms for cognitive impairment in Mucopolysaccharidosis I mice. (2013) (18)
Gene delivery strategies for the treatment of mucopolysaccharidoses (2014) (18)
Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study (2018) (17)
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results. (2022) (17)
Enzyme replacement therapy for mucopolysaccharidosis I: laronidase (2010) (17)
A useful multi-analyte blood test for cerebrotendinous xanthomatosis. (2014) (17)
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases (2011) (17)
Bone Marrow Mononuclear Cell Transplantation Improves Survival and Induces Hepatocyte Proliferation in Rats after CCl4 Acute Liver Damage (2010) (17)
Nager's acrofacial dysostosis with thumb duplication: report of a case (1984) (17)
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII (2017) (17)
Regional distribution of cystic fibrosis-linked DNA haplotypes in Brazil: multicenter study. (1997) (17)
X-linked adrenoleukodystrophy: Clinical course and minimal incidence in South Brazil (2010) (17)
Angiokeratoma: a cutaneous marker of Fabry’s disease (2010) (17)
Effect of collection, transport, processing and storage of blood specimens on the activity of lysosomal enzymes in plasma and leukocytes. (2000) (16)
Dentomaxillofacial manifestations of mucopolysaccharidosis VI: clinical and imaging findings from two cases, with an emphasis on the temporomandibular joint. (2013) (16)
Glucose-6-phosphate-dehydrogenase deficiency and its correlation with other risk factors in jaundiced newborns in Southern Brazil. (2011) (16)
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. (2020) (16)
Avaliação prospectiva de 11 pacientes brasileiros com mucopolissacaridose II (2006) (16)
Estimated birth prevalence of mucopolysaccharidoses in Brazil (2020) (16)
Phase I and II clinical trials for the mucopolysaccharidoses (2017) (16)
Di-sulfated keratan sulfate as a novel biomarker for mucopolysaccharidosis IVA (2015) (16)
Molecular analysis of the Pi*Z allele in patients with liver disease. (2001) (16)
Effects of Enzyme Replacement Therapy Started Late in a Murine Model of Mucopolysaccharidosis Type I (2015) (16)
Aortic root dilatation in patients with mucopolysaccharidoses and the impact of enzyme replacement therapy (2018) (16)
Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints. (2020) (16)
Biochemical properties of beta-glucosidase in leukocytes from patients and obligated heterozygotes for Gaucher disease carriers. (2005) (16)
UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association? (2012) (16)
Melanoma hereditário: prevalência de fatores de risco em um grupo de pacientes no Sul do Brasil (2004) (16)
Reliable detection of mucopolysacchariduria in dried-urine filter paper samples. (2013) (16)
Population analysis of the GLB1 gene in South Brazil (2011) (16)
Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil (2006) (15)
Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels (2017) (15)
Cancer Genetic Counseling in Public Health Care Hospitals: The Experience of Three Brazilian Services (2007) (15)
Progressive heart disease in mucopolysaccharidosis type I mice may be mediated by increased cathepsin B activity. (2017) (15)
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X‐inactivation analysis and imaging evaluations (2011) (15)
Placenta analysis of prenatally diagnosed patients reveals early GAG storage in mucopolysaccharidoses II and VI. (2011) (15)
Detection of organic acidemias in Brazil. (2002) (15)
New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression. (2009) (14)
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients (2017) (14)
Prenatal diagnosis of fetal chromosomal abnormalities: report of an 18-year experience in a Brazilian public hospital (2008) (14)
Consumption of Folic Acid-Fortified Flour and Folate-Rich Foods among Women at Reproductive Age in South Brazil (2008) (14)
Cytotoxic effect of amphotericin B in a myofibroblast cell line. (2013) (14)
Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) (2017) (14)
Enzyme Replacement Therapy with Pabinafusp Alfa for Neuronopathic Mucopolysaccharidosis II: An Integrated Analysis of Preclinical and Clinical Data (2021) (14)
Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil. (2010) (14)
Clinical and biochemical studies in mucopolysaccharidosis type II carriers (2009) (14)
Look carefully to the heels! A potentially treatable cause of spastic paraplegia (2015) (13)
Anthropometry, Nutritional Status, and Dietary Intake in Pediatric Patients with Osteogenesis Imperfecta (2014) (13)
Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II). (2012) (13)
Heterozygous cystinuria and urinary lithiasis. (1985) (13)
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene (2019) (13)
Iduronate-2-sulfatase fused with anti-hTfR antibody, pabinafusp alfa, for MPS-II: A phase 2 trial in Brazil (2021) (13)
Intrathecal/Intracerebroventricular enzyme replacement therapy for the mucopolysaccharidoses: efficacy, safety, and prospects (2018) (13)
Current molecular genetics strategies for the diagnosis of lysosomal storage disorders (2016) (13)
Cardio- Renal Outcomes With Long- Term Agalsidase Alfa Enzyme Replacement Therapy: A 10- Year Fabry Outcome Survey (FOS) Analysis (2016) (13)
Selective screening of Niemann-Pick type C Brazilian patients by cholestane-3β,5α,6β-triol and chitotriosidase measurements followed by filipin staining and NPC1/NPC2 gene analysis. (2016) (13)
Tratamento de erros inatos do metabolismo (2008) (13)
In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients. (2014) (13)
Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy (2014) (13)
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil (2018) (13)
Glycogen storage disease type Ia: molecular study in Brazilian patients (2001) (13)
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation (2020) (13)
An improved specific laboratory test for homocystinuria. (1982) (12)
Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I (2017) (12)
Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage. (2012) (12)
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. (2012) (12)
The polymorphism of the serotonin-2A receptor T102C is associated with age. (2008) (12)
Inborn errors of metabolism in Latin America: challenges and opportunities (2010) (12)
Molecular characterization of a large group of Mucopolysaccharidosis type IIIC patients reveals the evolutionary history of the disease (2019) (12)
Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know? (2017) (12)
Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family (2003) (12)
Application of a comprehensive protocol for the identification of Gaucher disease in Brazil (2005) (11)
Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events (2016) (11)
Mutation analysis of phenylketonuria in South Brazil (1996) (11)
High immunocontent of S100β protein in amniotic fluid of pregnancies with Down syndrome (2000) (11)
Therapy for mucopolysaccharidosis VI: (Maroteaux-Lamy syndrome) present status and prospects. (2014) (11)
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS). (2011) (11)
Globotriaosylsphingosine induces oxidative DNA damage in cultured kidney cells (2017) (11)
Urinary oligosaccharides: a peripheral marker for Sida carpinifolia exposure or poisoning. (2009) (11)
A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses (1998) (11)
Serum S100B levels in patients with neural tube defects. (2006) (10)
Lysosomal enzymes may cross the blood-brain-barrier by pinocytosis: implications for enzyme replacement therapy. (2014) (10)
TGFA/Taq I polymorphism and environmental factors in non-syndromic oral clefts in Southern Brazil. (2012) (10)
Mucopolysaccharidosis Caregiver Quality of Life (2015) (10)
[Organic aciduria: diagnosis in high-risk Brazilian patients] (2001) (10)
Galactosaemia in a Brazilian population: High incidence and cost–benefit analysis (2009) (10)
Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça (2008) (10)
Recent advances in molecular testing to improve early diagnosis in children with mucopolysaccharidoses (2018) (10)
A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean (2019) (10)
GM1 gangliosidosis: Clinical and laboratory findings in eight families (2004) (10)
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison (2018) (10)
Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study (2016) (10)
Epstein–Barr virus‐induced transformation of B cells for the diagnosis of genetic metabolic disorders – enumerative conditions for cryopreservation (2006) (10)
Emerging treatment options for the mucopolysaccharidoses (2012) (10)
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in patients from the southern Brazilian city of Porto Alegre, RS (2007) (10)
A 15-Year Perspective of the Fabry Outcome Survey: (2016) (9)
Metabolic factors in urolithiasis: a study in Brazil. (1980) (9)
GM1-ganglioside degradation and biosynthesis in human and murine GM1-gangliosidosis (2005) (9)
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies. (2000) (9)
Dermal melanocytosis associated with GM1-gangliosidosis type 1. (2006) (9)
Genomic analysis of Brazilian patients with Fabry disease. (2007) (9)
Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C (2020) (9)
Arylsulfatase A pseudodeficiency in healthy Brazilian individuals. (1999) (9)
Subcutaneous implantation of microencapsulated cells overexpressing α-L-iduronidase for mucopolysaccharidosis type I treatment (2017) (9)
Iduronate-2-sulfatase fused with anti-human transferrin receptor antibody, pabinafusp alfa, for treatment of neuronopathic and non-neuronopathic mucopolysaccharidosis II: Report of a phase 2 trial in Brazil. (2021) (9)
[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children] (2000) (9)
Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I (2020) (9)
Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase. (2002) (9)
Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey (2018) (9)
Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchart (2019) (9)
Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants (1995) (9)
Effects of imilglucerase withdrawal on an adult with gaucher disease (2001) (9)
Specificity and sensitivity of S100B levels in amniotic fluid for Down syndrome diagnosis. (2004) (9)
Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report (2014) (9)
Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA. (2008) (9)
Thalamic and basal ganglia hyperdensities--a CT marker for globoid cell leukodystrophy? (1992) (9)
Congenital malformations detected in 731 autopsies of children aged 0 to 14 years. (1987) (8)
Investigation of correlation of urinary globotriaosylceramide (Gb3) levels with markers of renal function in patients with Fabry disease. (2018) (8)
Genomic rearrangements in BRCA 1 and BRCA 2 : A literature review (2009) (8)
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice (2020) (8)
Information and Diagnosis Networks – tools to improve diagnosis and treatment for patients with rare genetic diseases (2019) (8)
Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology. (2015) (8)
The Latin-American Network of Human Genetics (2004) (8)
A novel LC-MS/MS assay to quantify dermatan sulfate in cerebrospinal fluid as a biomarker for mucopolysaccharidosis II. (2018) (8)
Updated birth prevalence and relative frequency of mucopolysaccharidoses across Brazilian regions (2021) (8)
Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: a new tool for the identification of mucopolisaccharidosis IIIA and potentially other lysosomal disorders. (2013) (8)
Bone Marrow Cells Reduce Collagen Deposition in the Rat Model of Common Bile Duct Ligation (2011) (8)
Treatment of MPS I mice with microencapsulated cells overexpressing IDUA: effect of the prednisolone administration (2013) (8)
Inclusion of medical genetics in primary health care: report of a pilot project in Brazil (2012) (8)
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study (2019) (8)
Clinical research challenges in rare genetic diseases in Brazil (2019) (8)
Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia (1996) (8)
Newborn screening for lysosomal disorders in Brazil: A pilot study using customized fluorimetric assays (2020) (8)
Precision Medicine for Lysosomal Disorders (2020) (8)
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease (2021) (8)
Evaluation of the long-term treatment effects of intravenous idursulfase in patients with mucopolysaccharidosis II (MPS II) using statistical modeling: data from the Hunter Outcome Survey (HOS) (2021) (8)
Hunter syndrome: Long-term idursulfase treatment does not protect patients against DNA oxidation and cytogenetic damage. (2018) (8)
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy. (2020) (8)
Extension of the molecular analysis to the promoter region of the iduronate 2-sulfatase gene reveals genomic alterations in mucopolysaccharidosis type II patients with normal coding sequence. (2013) (8)
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results (2022) (8)
Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. (2016) (8)
A Brazilian galactosialidosis patient given renal transplantation: A case report (2008) (8)
Intravenous infusion of iduronidase-IgG and its impact on the central nervous system in children with Hurler syndrome (2017) (8)
Brain imaging and genetic risk in the pediatric population, part 1: inherited metabolic diseases. (2015) (8)
Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects. (2004) (7)
Gene Therapy for Neuronopathic Mucopolysaccharidoses: State of the Art (2021) (7)
Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. (2019) (7)
Erratum: A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) (Genetics in Medicine (August 2006) 8, 8, (465-473)) (2006) (7)
Bone Marrow-Derived Mononuclear Cells Differentiate into Hepatocyte-Like Cells within Few Hrs without Fusion (2014) (7)
Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series (2016) (7)
Identification of mutations in Colombian patients affected with Fabry disease. (2015) (7)
INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN’S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE (2017) (7)
Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. (2011) (7)
Biochemical studies on leukocyte and fibroblast human β-galactosidase (1999) (7)
Prevalence of ERα-397 PvuII C/T, ERα-351 XbaI A/G and PGR PROGINS polymorphisms in Brazilian breast cancer-unaffected women (2012) (7)
A multi-national, randomized, double-blind, placebo-controlled study to evaluate the efficacy and safety of BMN 110 treatment for mucopolysaccharidosis IVA (Morquio syndrome type A) (2013) (7)
66An algorithm to assess the need for CSF shunting in mucopolysaccharidosis patients (2017) (7)
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants (2021) (7)
Polymorphisms in CYP19A1 and NFKB1 genes are associated with cutaneous melanoma risk in southern Brazilian patients (2016) (7)
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. (2020) (6)
Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome) (2015) (6)
Assessment of a Pioneer Metabolic Information Service in Brazil (2006) (6)
X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients (2000) (6)
The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease (2019) (6)
Genotype–phenotype studies in a large cohort of Brazilian patients with Hunter syndrome (2021) (6)
Visual Dysfunction of Type I and VI Mucopolysaccharidosis Patients Evaluated with Visual Evoked Cortical Potential (2012) (6)
Assessing the impact of the five senses on quality of life in mucopolysaccharidoses (2020) (6)
From DNA to the Community (2000) (6)
G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis. (2005) (6)
Treatment of inborn errors of metabolism. (2008) (6)
Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy (2020) (6)
SP004EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE (2018) (6)
Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency. (2011) (6)
Cancer-related worry and risk perception in Brazilian individuals seeking genetic counseling for hereditary breast cancer (2020) (6)
Alpha-mannosidase activity in goats fed with Sida carpinifolia. (2010) (6)
Mucopolysaccharidosis VII in Brazil: natural history and clinical findings (2021) (6)
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients (2015) (6)
Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density. (2011) (6)
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes (2020) (6)
Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil Organic aciduria: diagnosis in high-risk Brazilian patients (2001) (6)
Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS) (2017) (6)
Genotypic characterization of Brazilian patients with infantile and juvenile forms of metachromatic leukodystrophy. (2015) (6)
Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation (2000) (6)
Effects of gene therapy on cardiovascular symptoms of lysosomal storage diseases (2019) (5)
Comparison of the measurement of lysosomal hydrolase activity in mycoplasma-contaminated and non-contaminated human fibroblast cultures treated with mycoplasma removal agent. (2007) (5)
Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III (2020) (5)
Encapsulated Whole Bone Marrow Cells Improve Survival in Wistar Rats after 90% Partial Hepatectomy (2015) (5)
Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system (2022) (5)
Lessons from molecular modeling human α-L-iduronidase. (2014) (5)
Evaluation of galsulfase for the treatment of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) (2014) (5)
Extended use of dried-leukocytes impregnated in filter paper samples for detection of Pompe, Gaucher, and Morquio A diseases. (2015) (5)
Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry (2022) (5)
Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. (2021) (5)
The Inflammation in the Cytopathology of Patients With Mucopolysaccharidoses- Immunomodulatory Drugs as an Approach to Therapy (2022) (5)
Investigação de erros inatos do metabolismo (2001) (5)
Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN) (2022) (5)
Validation of a Multiplex Tandem Mass Spectrometry Method for the Detection of Selected Lysosomal Storage Diseases in Dried Blood Spots (2017) (5)
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses (2017) (5)
[Neonatal screening for hemoglobinopathies: a pilot study in Porto Alegre, Rio Grande do Sul, Brazil]. (2002) (5)
Application of a flowchart for the detection of lysosomal storage diseases in 105 high-risk Brazilian patients. (1990) (5)
Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders (2018) (5)
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA. (2013) (5)
Utility of rare disease registries in latin america. (2011) (5)
Losartan improves aortic dilatation and cardiovascular disease in mucopolysaccharidosis I (2017) (5)
Mucopolysaccharidoses in northern Brazil: Targeted mutation screening and urinary glycosaminoglycan excretion in patients undergoing enzyme replacement therapy (2011) (5)
Further cases of “neighbor” mutations in mucopolysaccharidosis type II (2006) (5)
Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA (2018) (5)
Clinical findings in Brazilian patients with adult GM1 gangliosidosis (2019) (5)
Detection of mucopolysaccharidosis type I heterozygotes on the basis of the biochemical properties of plasma alpha-L-iduronidase. (2001) (5)
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA (2021) (4)
Glycosidase active site mutations in human alpha-L-iduronidase. (2001) (4)
The use of LR values to check the best fit of cut-off values in G6PD deficient cases. (2007) (4)
Aspartame loading test in PKU heterozygous individuals bearing severe and moderate mutations (2000) (4)
Population medical genetics: translating science to the community (2019) (4)
Safety and clinical efficacy of AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein, in a 26-week study with pediatric patients with mucopolysaccharidosis type I (2018) (4)
Polymorphic variation of mononucleotide microsatellites in healthy humans and its implication for microsatellite instability screening. (2007) (4)
Deleterious effects of interruption followed by reintroduction of enzyme replacement therapy on a lysosomal storage disorder. (2016) (4)
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT (2017) (4)
MPSBase: Comprehensive repository of differentially expressed genes for mucopolysaccharidoses. (2021) (4)
Sea-blue histiocytosis in a family with Niemann-Pick disease. A clinical, morphological and biochemical study. (1992) (4)
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives (2020) (4)
Abnormal polyamine metabolism is unique to the neuropathic forms of MPS: potential for biomarker development and insight into pathogenesis (2017) (4)
Infantile sialic acid storage disease: report of the first case in South America. (1999) (4)
Outcomes of a Physician Survey on the Type, Progression, Assessment, and Treatment of Neurological Disease in Mucopolysaccharidoses: (2018) (4)
Isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency in a child with metabolic stroke (2006) (4)
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease. (2015) (4)
Programa de monitoramento de defeitos congênitos : experiência do estudo colaborativo latino-americano de malformações congênitas no HCPA (2001) (4)
Prenatal diagnosis of mucopolysaccharidosis VI by enzyme assay in a dried spot of fetal blood: a pioneering case report (2010) (4)
Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil (2000) (4)
Hematopoietic stem cell transplantation for patients with mucopolysaccharidosis type II (2017) (4)
Morquio‐like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1‐related phenotype (2021) (3)
Frequency of cystinuria among stone-forming patients in region of Brazil. (1986) (3)
Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries (2021) (3)
Phenotype of Fabry disease in patients with mutations amenable to migalastat (2016) (3)
Persistent tyrosinemia detected by thin-layer chromatography. (1999) (3)
Application of a protocol for the detection of disorders of sialic acid metabolism to 124 high‐risk Brazilian patients (2003) (3)
Intranasal delivery of the CRISPR-Cas9 system for gene editing in MPS II mice (2019) (3)
Effect of dimethylsulfoxide on sphingomyelinase activity and cholesterol metabolism in Niemann-Pick type C fibroblasts. (1999) (3)
Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy (2022) (3)
Aplicação de um protocolo clínico-laboratorial para identificação de erros inatos do metabolismo em crianças gravemente enfermas (2000) (3)
The polymorphism of the serotonin-2 A receptor T 102 C is associated with age (2008) (3)
Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity (2017) (3)
The March of Dimes Global Network for Maternal and Infant Health: Harnessing the power of experts in lower-income countries to improve the health of women, mothers, newborns and babies. (2009) (3)
Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients (2022) (3)
Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis (2016) (3)
Chapter 126 Impairment of Body Growth in Mucopolysaccharidoses (2011) (3)
Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. (2015) (3)
Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients (2014) (3)
Therapeutic Options for Mucopolysaccharidosis II (Hunter Disease). (2020) (3)
Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy (2016) (3)
12. The Mucopolysaccharidoses (2012) (3)
Niemann-Pick disease type C: a case series of Brazilian patients. (2014) (3)
Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: Phase 3 study results (2015) (3)
Renal-coloboma syndrome in a Brazilian family. (2001) (3)
A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide (2021) (3)
Long-term galsulfase treatment associated with improved survival of patients with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): 15 year follow-up from the survey study (2017) (3)
Selective screening of 18,000 high-risk brazilian patients for the detection of inborn errors of metabolism (2001) (3)
Spinal cord issues in adult patients with MPS: transition of care survey (2018) (3)
Design, baseline characteristics, and 18-24 months follow-up from the MPS IIIA natural history study (2019) (3)
Non viral gene transfer approaches for lysosomal storage disorders (2011) (3)
[Is there an association between cancer mortality and agrotoxics use? A contribution to the debate]. (2010) (3)
CT hypodensity on cerebral white matter in Wilson's disease. (1991) (3)
RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents (2013) (3)
Analysis of cDNA Molecules is Not Suitable for the Molecular Diagnosis of Mucopolysaccharidosis Type I (2012) (3)
Prevalence of the serpin peptidase inhibitor (alpha-1-antitrypsin) PI*S and PI*Z alleles in Brazilian children with liver disease (2008) (3)
Possible high frequency of tetrahydrobiopterin deficiency in South Brazil (1994) (3)
Anti-drug antibody response in mucopolysaccharidosis type I patients treated with AGT-181, a brain penetrating human insulin receptor antibody-iduronidase fusion protein (2018) (3)
Evaluation of an aspartame loading test for the detection of heterozygotes for classical phenylketonuria (1997) (2)
84Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT (2017) (2)
Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study (2017) (2)
High-Risk Screening and Diagnosis of Inborn Errors of Metabolism: A Practical Guide for Laboratories (2018) (2)
39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders (2007) (2)
International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study (2021) (2)
Common N-acetylgalactosamine-6-sulfate sulfatase (GALNS) exon mutations in Brazilian patients with mucopolysaccharidosis IVA (MPS IVA) (2007) (2)
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America (2022) (2)
Investigation of newborns screened in a pilot program for four lysosomal diseases in Brazil (2017) (2)
Renal outcomes with up to 9 years of migalastat in patients with Fabry disease: Results from an open-label extension study (2018) (2)
Sanfilippo Syndrome: The Tale of a Challenging Diagnosis (2020) (2)
Clinical outcomes after 3 years of idursulfase treatment in patients with MPS II: data from the Hunter Outcome Survey (HOS) (2017) (2)
Intravenous and intranasal genome editing using the CRISPR/Cas9 system leads to long-term improvements in MPS I mice (2018) (2)
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes (2022) (2)
Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases (2021) (2)
Seven-year experience of a reference laboratory for detection of inborn errors of metabolism in Brazil (1991) (2)
Erratum to “The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population” [Leuk. Res. 30 (2006) 477–481] (2009) (2)
RGX-121 gene therapy for the treatment of severe mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in-human study (2022) (2)
Effect of CuCl2, NaCl and EDTA on the enzyme alpha-L-iduronidase in the plasma of normal individuals and heterozygotes for MPS I. (2002) (2)
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency (2021) (2)
Fast and robust protocol for prenatal diagnosis of mucopolysaccharidosis type II (2014) (2)
2-13-05 Krabbe's disease—Report of an adult case with molecular studies (1997) (2)
Somatic effects of AGT-181 in patients with mucopolysaccharidosis I enrolled in a phase I/II clinical trial in Brazil (2018) (2)
Cause of death in patients with attenuated acid sphingomyelinase deficiency: Comprehensive literature review and report of new cases (2016) (2)
Disruption of morphogenic and growth pathways in lysosomal storage diseases. (2021) (2)
Pregnancy Events in Females with Fabry Disease in the Fabry Outcome Survey (2012) (2)
Mucopolysaccharidosis VI and effects on growth of the apical bases: a case report. (2018) (2)
[Transient neonatal tyrosinemia: a frequent abnormality] (1998) (2)
MicroRNA and gene expression studies provide novel information to understand heart disease in women with Fabry disease (2017) (2)
Clinical and biochemical effects of long-term vitamin A administration to a patient with Hurler-Scheie compound. (1984) (2)
One-year results of the placebo-controlled ASCEND trial of olipudase alfa enzyme replacement therapy in adults with chronic acid sphingomyelinase deficiency (2021) (2)
Simple and efficient screening of patients with Fabry disease with high resolution melting. (2018) (2)
[Pseudo-glaucoma in type VI mucopolysaccharidosis: case report]. (2007) (2)
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213]. (2017) (2)
Infecção em acesso temporário para hemodiálise em pacientes com insuficiência renal crônica (2019) (2)
Chromosome analysis in 31 cases of benign and malignant breast tumors: a study in Brazil. (2002) (2)
Molecular cytogenetic evaluation of chromosomal microdeletions: the experience of a public hospital in Southern Brazil (2014) (2)
Triagem neonatal para hiperfenilalaninemia: um estudo de coorte (2012) (2)
Triagem neonatal de distúrbios metabólicos no Hospital de Clínicas de Porto Alegre (1999) (2)
Gene Therapy of Mucopolysaccharidosis Type I Mice: Repeated Administrations and Safety Assessment of pIDUA/Nanoemulsion Complexes. (2021) (2)
Conventional MRI and MR spectroscopy in nonclassical mitochondrial disease: report of three patients with mitochondrial DNA deletion (2006) (2)
Granulações de Alder-Reilly em Pacientes com Mucopolissacaridose VI (2008) (2)
The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent (2015) (2)
MPS I and MPS II: Minimal estimated incidence in Brazil and comparison to the rest of the world (2015) (2)
29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) (2007) (2)
Prevalence of BRCA1 and BRCA2 founder mutations in Brazilian hereditary breast and ovarian cancer families (2008) (2)
Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy: an update following extended treatment (2017) (2)
A comprehensive screening program in South Brazil. (1999) (2)
Measurement of sulfatides in the amniotic fluid supernatant: A useful tool in the prenatal diagnosis of metachromatic leukodystrophy (2022) (2)
[Management of a case of maple syrup urine disease--the use of gluco-insulinotherapy]. (1995) (2)
Detection of metabolic disorders in high-risk patients. A pilot study in Salvador, Bahia. (1997) (2)
Monitoring of Phenylalanine Levels in Patients with Phenylketonuria Using Dried Blood Spots: a Comparison of Two Methods (2020) (2)
Prenatal Diagnosis of Atypical Phenylketonuria (1989) (2)
Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories (2022) (1)
Gene editing strategies to treat lysosomal disorders: the example of mucopolysaccharidoses. (2022) (1)
Galactocerebrosidase assay on dried-leukocytes impregnated in filter paper for the detection of Krabbe disease (2015) (1)
ELAG – 10 Successful Years (2013) (1)
Improvement in gastrointestinal symptoms observed in the phase 3 FACETS (AT1001-011) study of migalastat in patients affected with Fabry disease (2015) (1)
[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]. (2005) (1)
Geographic distribution and possible origins of most frequent mutations observed in mucopolysaccharidosis type I patients (2018) (1)
Schizophreniform presentation and abrupt neurologic decline in a patient with late-onset mucopolysaccharidosis type IIIB. (2021) (1)
Diagnosing communicating hydrocephalus in mucopolysaccharidoses: Correlation between cerebrospinal fluid flow imaging and lumbar pressure studies (2015) (1)
Newborn screening for mucopolysaccharidoses by GAG assay with tandem mass spectrometry (2018) (1)
RGX-111 gene therapy for the treatment of severe mucopolysaccharidosis type I (MPS I): Interim analysis of data from the first in-human study (2022) (1)
MPS Brazil Network: An efficient tool to identify MPS patients country-wide (2013) (1)
Bone-marrow derived cells participate in extramedullary hematopoiesis in a model of acetaminophen-induced acute liver failure in rats (2013) (1)
Sub-analysis of long-term elosulfase alfa treatment outcomes in adults with Morquio syndrome type A (2017) (1)
Impact of long-term elosulfase alfa treatment on pulmonary function in patients with Morquio syndrome type A (2016) (1)
Polymorphic variation of mononucleotide microsatellites and its implication for microsatellite instability screening (2006) (1)
Tralesinidase alfa (AX 250) enzyme replacement therapy for Sanfilippo syndrome type B (2021) (1)
A Case Report on the Challenging Diagnosis of Neuronal Ceroid Lipofuscinosis Type 2 (CLN2) (2020) (1)
Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites: First case in Brazil (1998) (1)
Novel NAGLU variants associated with MPS IIIB and in vitro analysis of residual enzymatic activities (2017) (1)
STROKE IN FABRY DISEASE: GENOTYPE-PHENOTYPE CORRELATION (2012) (1)
Longitudinal natural history of pediatric subjects affected with mucopolysaccharidosis IIIB. (2022) (1)
RGX-121 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE II (MPS II): INTERIM ANALYSIS OF DATA FROM A PHASE 1/2 STUDY (2022) (1)
Magnetic resonance imaging findings of the posterior fossa in 47 patients with mucopolysaccharidoses: A cross‐sectional analysis (2021) (1)
Recommendations for Assessment and Management of Health-Related Quality of Life in Patients with Mucopolysaccharidoses in Latin America (2019) (1)
Sanfilippo syndrome: consensus guidelines for clinical care (2022) (1)
Urine keratan sulfate (uKS) elevation in lysosomal disorders (LSD): Comparison of uKS levels in Morquio/MPS IV versus non-Morquio LSD (2015) (1)
Elosulfase alfa treatment and changes in physical functioning and disability in Morquio syndrome type A (2017) (1)
Aortic root dilatation in patients with mucopolysaccharidoses and the effect of enzyme replacement therapy (2017) (1)
Maintaining clinical efficacy with cost-reduction in the treatment of Gaucher disease : an example of a successful experience in the south of Brazil (2005) (1)
. Latin American School of Human and Medical Genetics and Latin American Network of Human Genetics: Promoting Education, Interaction and Networking Across Latin America (2012) (1)
S100B protein and amniotic fluid. (2003) (1)
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report (2022) (1)
Menarche, menopause, and pregnancy data in untreated females and females treated with agalsidase alfa in the Fabry Outcome Survey (2018) (1)
Early and unusual presentation of type I primary hyperoxaluria. (1990) (1)
eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial (2022) (1)
Intrathecal delivery of recombinant human arylsulfatase A in children with late-infantile metachromatic leukodystrophy: A post hoc analysis of responders and non-responders (2018) (1)
Newborn Screening for MPS VI in a High-incidence Area of Northeast Brazil: Preliminary Results of a Pilot Program (2012) (1)
Population Medical Genetics in Brazil (2012) (1)
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency (2022) (1)
Biochemical studies on leukocyte and fibroblast human beta-galactosidase. (1999) (1)
Intrafamilial variability in the clinical presentation of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) (2017) (1)
Pseudo deficiency of acid Î±-glucosidase: a challenge in the newborn screening for Pompe diseases (2017) (1)
Enzyme Replacement Therapy With Elosulfase Alfa Decreases Storage of Glycosaminoglycan in White Blood Cells of Patients With Morquio A Syndrome (2015) (1)
Capturing the MPS IIIA patient and family voice in orphan drug development to appreciate what is important in managing the disease and improving quality of life (2019) (1)
Analysis of C6S/C4S ratio in Morquio syndrome type A patients (2015) (1)
Vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program (DMP) (2022) (1)
RGX-121 gene therapy for severe mucopolysaccharidosis type II (MPS II): Interim results of an ongoing first in human trial (2021) (1)
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C (2022) (1)
Genetic counseling and cancer risk perception in Brazilian patients at-risk for hereditary breast and ovarian cancer. (2004) (1)
Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial (2021) (1)
Continued improvement in pulmonary, visceral, biomarker and growth outcomes in children with chronic acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy: 2-year results of ASCEND-Peds (2022) (1)
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study (2019) (1)
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing (2021) (1)
Important aspects in the molecular diagnosis of mucopolysaccharidoses (2013) (1)
Hematopoietic stem cell transplantation and ERT for Hunter syndrome (2016) (1)
Punctate calcifications in lysosomal storage disorders. (2009) (1)
Accurate quantitation of plasma globotriaosylsphingosine (lyso-Gb3) in normal individuals and Fabry disease patients by liquid chromatography–tandem mass spectrometry (LC–MS/MS) (2015) (1)
Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry (2022) (1)
Cardiac pathology in mucopolysaccharidosis I mice: Losartan modifies ERK1/2 activation during cardiac remodeling (2020) (1)
Laronidase-Functionalized Multiple-Wall Lipid-Core Nanocapsules: Promising Formulation for a More Effective Treatment of Mucopolysaccharidosis Type I (2014) (1)
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil (2021) (1)
PO-0096 Clinical Effectiveness Of Idursulfase In Boys Aged 0–5 Years With Hunter Syndrome: 3-year Data From The Hunter Outcome Survey (2014) (1)
Identificação semi-automatizada de mutações frequentes no gene da fenilalanina hidroxilase (2008) (1)
Infections in temporary access for hemodialysis in chronic renal failure patients / Infecção em acesso temporário para hemodiálise em pacientes com insuficiência renal crônica (2019) (1)
Prevalência da doença da urina do xarope do bordo em pacientes brasileiros (2002) (1)
Identificação de mutações no gene da arilsulfatase A através de PCR em tempo real (2007) (1)
Detecção de mutações no gene cftr através de pcr em tempo real e sondas de hibridização fluorescentes (2008) (1)
Responsividade à tetrahidrobiopterina em pacientes brasileiros com deficiência de fenilalanina hidroxilase (2010) (1)
Mucopolissacaridoses I, II e VI: estudo epidemiológico comparativo entre as regiões nordeste (NE), sudeste (SE) e sul (S) do Brasil (2008) (1)
Leucodistrofia metacromática : a aplicação do PCR em tempo real na detecção molecular de mutações freqüentes em pacientes brasileiros (2006) (1)
Atualização das frequências de mutações no gene ARSB em pacientes com Mucopolissacaridose tipo VI após 10 anos de análises (2016) (1)
Associação entre o polimorfismo STK15 F31I e fatores de risco para câncer de mama em mulheres submetidas a rastreamento mamográfico no sul do Brasil (2008) (1)
Aplicação de um protocolo clínico-laboratorial para identificação de erros inatos do metabolismo em crianças gravemente enfermas Application of a clinical and laboratorial protocol of investigation of inborn errors of metabolism among critically ill children (2000) (1)
Prevalência de fatores de risco para câncer de mama e polimorfismos ERα-397 PVUII C/T, ERα-351 XBAI A/G e PR progins em mulheres submetidas a rastreamento mamográfico no sul do Brasil (2008) (1)
Síndrome de borjeson-forssman-lehmann: relato de um caso (1986) (1)
Identificação de alterações no gene da glicocerebrosidase em pacientes com doença de Gaucher (2006) (1)
Polimorfismos nos genes GSTM1, GSTT1 e GSTP1 em 750 mulheres participantes de um programa de rastreamento mamográfico de câncer de mama (NMPOA) no sul do Brasil (2008) (1)
Padronização da técnica da Arilsulfatase A em tecidos de camundongos para posterior aplicação com pesquisa de terapia gênica (2007) (1)
Mucopolissacaridoses no Brasil : características epidemiológicas antes da rede MPS Brasil (2006) (1)
Identificação de mutações frequentes no gene da fenilalanina hidroxilase por PCR em tempo real em amostras provenientes da triagem neonatal. (2009) (1)
Triagem neonatal para hemoglobinopatias em Porto Alegre : prevalência e impacto na saúde : dados preliminares (1999) (1)
Sleep apnoea in patients with mucopolysaccharidoses (2002) (1)
Profile of disease-specific oligosaccharides in the cerebrospinal fluid of patients with mucopolysaccharidoses (2022) (0)
Freqüência da mutação R408W em pacientes com fenilcetonúria do sul do Brasil e correlação com sua origem étnica (1999) (0)
Age at symptom onset, diagnosis, and enzyme replacement therapy (ERT) initiation among family members with mucopolysaccharidosis II (Hunter Syndrome): Data from the Hunter Outcome Survey (HOS) (2013) (0)
Effects of interruption of ERT in renal function in Fabry disease patients (2010) (0)
Niemann-Pick Disease Type C: Mutation Spectrum and Novel Sequence Variations in the Human NPC1 Gene (2019) (0)
Table of Contents (2022) (0)
MPS II deletion including contiguous genes (2011) (0)
Insights into the management of patients with MPS II: Key findings following 10 years of the Hunter Outcome Survey (HOS) (2016) (0)
Plasma pharmacokinetics of a human insulin receptor antibody-iduronidase fusion protein in patients with mucopolysaccharidosis type I (2018) (0)
Supplementary Material for: Intellectual Disability in a Birth Cohort: Prevalence, Etiology, and Determinants at the Age of 4 Years (2016) (0)
Standardization of an organic DNA extraction method from dried blood spots and its downstream molecular applications for neonatal screening and diagnostic confirmation of lysosomal disorders (2022) (0)
EARLY CLINICAL MANIFESTATIONS IN PATIENTS DIAGNOSED WITH HUNTER SYNDROME: DATA FROM THE HUNTER OUTCOME SURVEY (2008) (0)
Decreased cerebrospinal fluid absorption and hydrocephalus in mucopolysaccharidoses: obstructed arachnoid granulations or elevated venous pressure? (2018) (0)
Biomarkers profiling in patients with mucopolysaccharidosis and correlation with other primary biomarkers (2023) (0)
Pilot Study of Newborn Screening for Six Lysosomal Diseases in Brazil (2023) (0)
Detecção de adrenomieloneuropatia e adrenoleucodistrofia cerebral infantil em pacientes brasileiros (2004) (0)
Correlation between birth weight, disease severity and outcomes in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS) (2015) (0)
Elosulfase alfa decreases glycosaminoglycan storage in white blood cells from Morquio syndrome type A patients undergoing enzyme replacement (2015) (0)
JIEMS special issue dedicated to the 13th ICIEM (Rio de Janeiro, Brazil, September, 5-8, 2017) (2018) (0)
Newborn screening for six lysosomal diseases in Brazil: Pilot study update (2021) (0)
Evidence-based, expert-agreed recommendations for the management of patients with MPS IVA/VI: Recommendations to replace the specific missing enzyme (2019) (0)
83Sanfilippo syndrome type B: a review of patients diagnosed by the MPS Brazil Network (2017) (0)
Protocolo de triagem por SSCP para a distinção entre polimorfismos e mutações patogênicas no gene da beta-galactosidase ácida em pacientes com gangliosidose GM1 (2005) (0)
Reversion of activated phenotype in GRX cells using RNAI for TGF-Beta1 : preliminary results (2007) (0)
Design and rational of the natural history study in preparation for the pivotal clinical trial for the treatment of Sanfilippo syndrome type A (2017) (0)
The Contribution of Molecular Techniques in Prenatal Diagnosis and Post mortem Fetus with Multiple Malformation (2011) (0)
Ventricular vascular coupling in mucopolysaccharidosis types IVA and VI: Data from the baseline assessment of a phase II clinical trial (2023) (0)
Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses (2017) (0)
What Lies Beneath: Unraveling the Neurological Phenotype of Niemann-Pick Type C Disease in Adults (P03.055) (2013) (0)
Continued improvement in pulmonary outcomes in 3 clinical trials of olipudase alfa in children and adults with chronic acid sphingomyelinase deficiency treated for 2 to 6.5 years (2022) (0)
Robinow syndrome : report of a case and review (1983) (0)
Screening for mucopolysaccharidoses' subtypes by tandem mass spectrometry determination of disease-specific oligosaccharides in dried blood spots (2023) (0)
Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International (2023) (0)
Diagnosis and Emerging Treatment Strategies for Mucopolysaccharidosis VII (Sly Syndrome) (2022) (0)
Treating Niemann-pick type C in Brazil: follow-up of 28 patients (2011) (0)
Results from a phase 2 trial of a blood-brain barrier penetrating enzyme (JR-141) in patients with MPS II in Brazil (2020) (0)
A simple protocol for transfecting human mesenchymal stem cells (2018) (0)
FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER (2006) (0)
Plasma lyso-sphingomyelin as a biomarker for acid sphingomyelinase deficiency: Correlations with baseline disease and response to olipudase alfa treatment in clinical trials (2023) (0)
Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I (2018) (0)
Efeito do tratamento com prednizolona na formação de fibrose em microcápsulas de alginato (2011) (0)
Tay-sachs disease in a non-jewish patient : a report (1984) (0)
Back Cover, Volume 40, Issue 8 (2019) (0)
Disease characteristics, early effectiveness, and safety of vestronidase alfa for the treatment of mucopolysaccharidosis type VII (MPS VII) assessed in a novel, longitudinal, multicenter Disease Monitoring Program (DMP) (2021) (0)
Long-term catch-up growth in children with acid sphingomyelinase deficiency treated with olipudase alfa enzyme replacement therapy in the ASCEND-Peds trial (2023) (0)
NEONATAL INTRAVENOUS INJECTION OF CRISPR/CAS9 LIPOSOMAL COMPLEX DOES NOT INCREASE TUMOR FREQUENCY IN MICE (2022) (0)
Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency (2020) (0)
Sustained Improvement of Interstitial Lung Disease Following Enzyme Replacement Therapy with Olipudase Alfa in Children and Adults with Chronic Acid Sphingomyelinase Deficiency (2022) (0)
Progesterone receptor gene polymorphism (PROGINS) in 701 women from a mammographic breast cancer screening program (NMPOA) in Southern Brazil (2007) (0)
Joining the pieces of a puzzle: The Brazilian neurolipidoses network (2011) (0)
Prenatal diagnosis of mucopolysaccharidosis type VI by analysis of the amniotic fluid supernatant in the mass spectrometry era (2022) (0)
Microsatellite instability testing in genetically heterogeneous populations. (2007) (0)
Disease characteristics, early effectiveness, and safety of vestronidase alfa for treatment of mucopolysaccharidosis VII assessed in novel disease monitoring program (2021) (0)
Pedigree analysis: A call to action to raise awareness of Fabry disease and the importance of family history evaluation (2015) (0)
PSY6 CONTRIBUTIONS OF THE HUNTER OUTCOME SURVEY (HOS) TO ADVANCING UNDERSTANDING OF HUNTER SYNDROME (2009) (0)
Inflammatory process and oxidative/nitrative stress: In vivo study in mucopolysaccharidosis type IV a patients under long-term enzyme replacement therapy. (2023) (0)
Presenting signs and symptoms of MPS: Results of a systematic literature analysis (2018) (0)
Type B Niemann-Pick Disease: FindingsatChestRadiography,Thin- SectionCT,andPulmonaryFunction (2006) (0)
Development of consensus guidelines for the clinical care of individuals with Sanfilippo syndrome (2023) (0)
Nasal administration of laronidase-loaded liposomes aiming at mucopolysaccharidosis type I treatment (2023) (0)
Enzyme assays in dried-cell filter paper samples: A new tool for the identification of lysosomal storage disorders (2013) (0)
Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786]. (2021) (0)
Early transgene expression of GALC enzyme in a phase I/II safety, tolerability and efficacy study of PBKR03 in infants with early infantile Krabbe disease (EIKD) (GALax-C) (2023) (0)
Pilot study update: Newborn screening for lysosomal disorders in Brazil (2022) (0)
86. Tay-Sachs B1 variant: An amenable disorder to substrate reduction therapy? (2010) (0)
“What lies beneath:” Unraveling Nieman–Pick type C disease in adults (2013) (0)
Natural history of mucopolysaccharidosis I: Data from 1017 patients in the MPS I registry (2013) (0)
Enzyme Replacement Therapy in MPS I Mice: the Sooner The Better? (2012) (0)
169 Update on Enzyme Replacement Therapy (ERT) with Recombinant Human Arylsulfatase B (RHASB) for MPS VI (Maroteaux-Lamy) (2005) (0)
Contents Vol. 2, 1999 (2000) (0)
Oral Migalastat HCL (AT1001/GR181314A) as an Investigational Therapy Evaluated in Females with Fabry Disease (2012) (0)
RGX-111 GENE THERAPY FOR THE TREATMENT OF SEVERE MUCOPOLYSACCHARIDOSIS TYPE I (MPS I): INTERIM ANALYSIS OF DATA FROM A PHASE 1/2 STUDY (2022) (0)
Temporary high-level expression of beta-galactosidase activity in fibroblasts from GM1 gangliosidosis patients (2005) (0)
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective (2023) (0)
Abstracts (2004) (0)
Mutation spectrum and haplotype study of mucopolysaccharidosis type IIIC patients reveal possible migration events and founder effects of HGSNAT mutations (2017) (0)
Lentiviral haematopoietic stem cell gene therapy for metachromatic leukodystrophy: Results in 5 patients treated under nominal compassionate use (2023) (0)
Spinocerebellar Ataxias with Hypogonadism: Unraveling a Novel Group of Inherited Neurometabolic Disorders (P6.061) (2014) (0)
Children treated with olipudase alfa for chronic acid sphingomyelinase deficiency show meaningful improvement on clinically relevant outcomes and an overall favorable safety profile: 1-year results of the ASCEND-Peds trial (2021) (0)
Interim results of a phase 1/2 study of JR-171 (lepunafusp alfa), a novel brain-penetrant enzyme replacement therapy for MPS I (2023) (0)
Body fat assessment by bioelectrical impedance in patients with mucopolysaccharidosis (2014) (0)
A heartfelt "thank you" to all the reviewers of the Journal of Community Genetics in 2010 (2011) (0)
Evaluation of Globotriaosylceramide (GL-3) Accumulation in 18 Patients with Fabry Disease Nephropathy. Podocytes are More Severely Affected than Peritubular Capillaries (2012) (0)
MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME): DEVELOPMENT OF CLINICAL AND LABORATORY GUIDELINES FOR DIAGNOSIS (2012) (0)
Are we missing complex rearrangements by next generation diagnostic approaches: A case report of a complex rearrangement in MPS II (2019) (0)
Niemann-Pick Type C in Brazil: Natural History and Clinical Course in 42 Patients (2012) (0)
Characteristics of patients with mucopolysaccharidosis type II (MPS II) diagnosed aged <5 years: data from the Hunter Outcome Survey (HOS) (2017) (0)
MPS Brazil Network: A summary of all mucopolysaccharidosis type IIIB patients (2019) (0)
RGX-121 gene therapy for the treatment of neuronopathic mucopolysaccharidosis type II (MPS II): Interim analysis of data from the first in human study (2023) (0)
Lc/ms/ms Measurement Of Glycosaminoglycans In Amniotic Fluid Of A Mps Vii Fetus (2017) (0)
Hidropsia fetal não-imune : uma proposta para obter o diagnóstico (2002) (0)
Long-term reestablishment of alpha-L-iduronidase activity in MPS I fibroblasts after non-viral gene transfer (2017) (0)
Preliminary data from first clinical trial of enzyme replacement therapy with olipudase alfa in pediatric patients with chronic visceral and neurovisceral acid sphingomyelinase deficiency (2020) (0)
Alternative laronidase dose regimen for patients with mucopolysaccharidosis i (2016) (0)
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Prospective longitudinal study of neurological disease trajectory in children living with late-infantile or juvenile onset of GM1 or GM2 gangliosidosis (PRONTO study) (2022) (0)
Effect of losartan and propranolol on cardiac remodeling in mucopolysaccharidosis type I mice (2020) (0)
Newborn genome editing improves phenotype, cardiovascular, respiratory, and bone disease in mucopolysaccharidosis type I mice (2019) (0)
Informing patients with rare diseases about COVID-19: Creation of the “Beto and the Coronavirus” booklet (2021) (0)
Genetics: an essential tool for the pediatrician of the 21st century. (2008) (0)
X-linked adrenoleukodystrophy in south american patients : identification of 23 mutations in the ABCD1 gene in 24 index cases and 83 relatives (2010) (0)
Null allele polymorphisms in the GSTT1 and GSTM1 genes in 705 women from a mammographic breast cancer screening program (NMPOA) in southern Brazil (2007) (0)
Re: Metabolic factors in urolithiasis: a study in Brazil. (1987) (0)
CORRIGENDUM: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome (2013) (0)
UPDATED RESULTS FROM A NOVEL, LONGITUDINAL, MULTICENTER DISEASE MONITORING PROGRAM (DMP) OF VESTRONIDASE ALFA FOR THE TREATMENT OF MUCOPOLYSACCHARIDOSIS VII (MPS VII) (2022) (0)
Can MPS patients be identified by facial features (2019) (0)
Enzyme Replacement Therapy with Pabinafusp Alfa for Neu- ronopathic Mucopolysaccharidosis II: an Integrated Analysis of Preclinical and Clinical Data (2021) (0)
Rapidly advancing phenotype consistently identified in five Brazilian MPS VI patients homozygous for the R315Q mutation (2013) (0)
Evaluating enzyme replacement therapies for Anderson-Fabry disease: commentary on a recent report (2018) (0)
Frequency and accuracy of the first-degree family history of cancer in a community-based sample of women with low literacy in the South of Brazil (2007) (0)
The incidence of p.R506Q and c.G20210A mutations in South Brazilian patients with Fabry disease and with Gaucher disease (2013) (0)
Identification of MPS clusters in Latin America: An opportunity for targeted health care programs (2019) (0)
Renato Zamora Flores (2002) (0)
BONE DISEASE IN MUCOPOLYSACCHARIDOSIS I: MORPHOLOGICAL AND BIOMECHANICAL PROPERTIES AND EFFECT OF GENE EDITING WITH CRISPR/CAS9 SYSTEM (2022) (0)
A precision medicine tool for high utilization and quality of individual treatment trials with immunomodulatory drugs in mucopolysaccharidosis (2023) (0)
Mutation analysis in South American patients with Mucopolysaccharidosis type I (2001) (0)
Long-term restoration of alpha-L-iduronidase activity in fibroblasts from patients with mucopolysaccharidosis type I after non-viral gene transfer (2017) (0)
Long-term treatment with migalastat 150 mg every other day is associated with sustained cardiac efficacy and is well tolerated (2021) (0)
Comparação entre dois protocolos de diagnóstico molecular para a identificação de rearranjos complexos no gene da iduronato sulfatase em pacientes com MPS II (2010) (0)
Urine karatan sulfate (uKS) in Morquio syndrome type A patients measured via LC-MS/MS method: Improved KS detection as compared to dye-based methods and report of age-specific uKS reference ranges (2015) (0)
O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil (2023) (0)
Gastrointestinal manifestations in patients with mucopolysaccharidoses (2014) (0)
Attenuated multiple sulfatase deficiency: Description of two Brazilian patients showing interesting clinical and genetic findings (2019) (0)
Two-year results of the ASCEND trial of olipudase alfa adults with chronic acid sphingomyelinase deficiency show parallel improvements in former placebo patients and further improvement in continuing olipudase alfa patients (2022) (0)
69CRISPR/Cas9-directed genome editing of human MPS I fibroblasts (2017) (0)
One-year results of olipudase alfa enzyme replacement therapy in children with chronic visceral and neurovisceral acid sphingomyelinase deficiency (2021) (0)
Immunohistochemical and molecular screening of colorectal tumors in individuals with the hereditary and sporadic phenotypes (2010) (0)
Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts’ perspectives (2022) (0)
The Latin American School of Human and Medical Genetics: promoting education and collaboration in genetics and ethics applied to health sciences across the continent (2015) (0)
PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL (2022) (0)
Orthopedic manifestations in patients with mucopolysaccharidosis type II enrolled in the Hunter Outcome Survey (2021) (0)
Corrigendum to Universal newborn screening: A roadmap for action molecular genetics and metabolism 124 (2018) 177-183. (2019) (0)
Study of the comprehension of the scientific method by members of a university health research laboratory (2012) (0)
Molecular basis of mucopolysaccharidosis type IVA (Morquio syndrome type A): A review and classification of gene variants and reporting of new variants (2021) (0)
Quantification of glycosaminoglycans in mucopolysaccharidosis type IIID: The first Brazilian patient identified (2020) (0)
Cytogenomic evaluation of chromosome rearrangements by array-CGH in the iduronate-2 sulphatase (IDS) gene region (2013) (0)
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network (2021) (0)
Limited clinical impact of anti-idursulfase antibodies developed during long-term idursulfase enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) patients aged 5-35 years (2014) (0)
Verylowlevels ofhighdensity lipoprotein cholesterol infour sibs ofafamily withnon-neuropathic Niemann- Pickdisease andsea-blue histiocytosis (1990) (0)
Oropharyngeal Dysphagia in Mucopolysaccharidoses: Evidence from Videofluoroscopic Swallowing Study (2022) (0)
Molecular characterization of 103 South American patients with mucopolysaccharidosis type II reveals 30 novel mutations (2014) (0)
Effects of acid sphingomyelinase deficiency on oral health and craniofacial development (2021) (0)
Manutenção de células mononucleares de medula após implante no hipocampo cerebral: resultados preliminares (2005) (0)
The impact of COVID-19 on Brazilian children with MPS: Advocate group perspective (2022) (0)
Exploration of the efficacy of pabinafusp-alfa (JR-141) on neurocognitive development in Hunter syndrome (MPS II): 52-week data from clinical trials in Japan and Brazil (2021) (0)
“You can't always get what you want”: Filipin staining unmasking lysosomal acid lipase (LAL) deficiency in a young child (2013) (0)
Neonatal complication in infantile type galactosialidosis (2003) (0)
Difficulties in the Diagnosis of Gaucher Disease in a Low-Income Country: A Case Report from Mozambique (2021) (0)
A Case of Early Infantile Pompe Disease with Atypical Manifestation. (2015) (0)
Chitotriosidase: is it a useful biochemical marker for the assessment of Fabry patients treated by enzyme replacement therapy? (2002) (0)
Presenting signs and symptoms of MPS: Results of an international physician survey (2018) (0)
New measure to assess severity of MPS II: the disease severity score (2016) (0)
Title Establishment of glycosaminoglycan assays for mucopolysaccharidoses (2017) (0)
Impact of COVID-19 on treatment and follow-up in patients with selected lysosomal diseases in a Brazilian center (2021) (0)
Amelioration of Short Stature in Patients with Hunter Syndrome Receiving Idursulfase: Data from the Hunter Outcome Survey (HOS) (2012) (0)
Long-term outcomes in patients with Fabry disease who were treated with agalsidase alfa for more than nineteen years: The Fabry Outcome Survey (2023) (0)
[Oxalic acid and urinary lithiasis: a study]. (1980) (0)
Clinical and biochemical study of Brazilian patients with metachromatic leukodystrophy (2019) (0)
Long-term neurodevelopmental changes in subjects with MPS II following long-term treatment with pabinafusp alfa: An integrated analysis from pre- and post-approval clinical trials in Brazil and Japan (2023) (0)
Design, baseline characteristics, and early findings of the MPS IIIA (mucopolysaccharidosis type IIIA) clinical observational study (2018) (0)
Design of a prospective, multicenter, multinational, observational safety and outcomes registry in Fabry disease patients treated with migalastat and untreated patients (2019) (0)
Efeitos da equoterapia em pacientes com síndrome de Williams e Síndrome de Smith-Lemli-Opitz (2005) (0)
PSY2 CONTRIBUTIONS OF THE FABRY OUTCOME SURVEY (FOS) TO ADVANCING THE MANAGEMENT OF FABRY DISEASE (2008) (0)
Detecção da mutação V30M no gene da transtirretina (TTR) : a contribuição laboratorial para o diagnóstico de Paramiloidose (2004) (0)
List of Contributors (2021) (0)
[Börjeson-Forssman-Lehmann syndrome: report of a case]. (1986) (0)
Glycosaminoglycans can be associated with oxidative damage in mucopolysaccharidosis II patients submitted to enzyme replacement therapy (2014) (0)
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Various Mucopolysaccharidoses and GM1 Gangliosidosis (2023) (0)
Baseline patient characteristics of followME, a new, patient-centric, prospective, observational Fabry disease registry that evaluates migalastat, ERT, and a natural history cohort (2020) (0)
Determinação da mutação D409H em pacientes portadores da Doença de Gaucher (2002) (0)
Quantification of glycosaminoglycan species in patients with multiple sulfatase deficiency by liquid chromatography tandem mass spectrometry: A potential biomarker for this condition (2020) (0)
Quantitation of glycosaminoglycans in amniotic fluid by liquid chromatography tandem mass spectrometry: A potential tool for the rapid prenatal identification of MPS in pregnancies at risk (2020) (0)
Population-based identification and characterization study of patients at-risk for hereditary breast cancer in in Southern Brazil: Preliminary results (2005) (0)
Genetic predisposition to febrile convulsions: a preliminary study. (1980) (0)
Genome editing in lysosomal disorders. (2021) (0)
Clinical trials for genetic diseases in Latin America (2021) (0)
The validation of pharmacogenetics in the identification of patients with Fabry disease for treatment with migalastat (2016) (0)
Enzyme replacement therapy with double-dose Iaronidase every other week is safe and effective: case reports and glycosaminoglycan excretion patterns in ten mucopolysaccharidosis type I patients (2014) (0)
Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study (2017) (0)
Detection of R337H, a germline mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening programme in southern Brazil (2007) (0)
Fabry Outcome Survey Analyses and Publications : Highlights of the Last 15 Years Diagnosis , Disease Severity , and Mortality (2016) (0)
Baseline demographics and clinical characteristics of patients enrolled in the followME Fabry Pathfinders registry (2022) (0)
GM1‐gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat (2022) (0)
Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4]. (2022) (0)
MAY LYSOSOMAL-RELATED GENES BE LINKED TO ATYPICAL PARKINSONISM? A BRAZILIAN STUDY (2023) (0)
Identification of a biomarker that differentiates neuronopathic forms of MPS I and MPS II (2022) (0)
Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4] (2022) (0)
Correction : Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results (2023) (0)
Neurological phenotypes in Niemann-Pick disease type C (NPC): clinical, biochemical and neuroradiological retrospective review of 48 Brazilian patients (2014) (0)
Clinical characteristics of female patients enrolled in the FollowME Fabry Pathfinders registry (2023) (0)
A phase 2, randomized, double-blind, placebo-controlled, multicentre study to evaluate the efficacy and safety of pentosan polysulfate sodium in treating subjects with mucopolysaccharidosis type VI: Study update (2023) (0)
[A schedule for the detection of metabolic disorders in subjects with urolithiasis]. (1981) (0)
Genotype–phenotype findings in patients with mucopolysaccharidosis II (MPS II): data from the Hunter Outcome Survey (2021) (0)
A double-blind placebo-controlled phase 2 study to evaluate the safety and tolerability of pentosan polysulfate sodium in subjects with mucopolysaccharidosis type VI (MPS VI) (2022) (0)
Early development of a locus specific database for , the gene associated with mucopolysaccharidosis type VII: Hints of a higher predicted prevalence (2023) (0)
Broad clinical and laboratory spectrum found in 9 Niemann–Pick disease type C Southern Brazilian patients (2015) (0)
Inclusion of medical genetics in primary health care: report of a pilot project in Brazil (2012) (0)
Genotype-phenotype findings in patients with mucopolysaccharidosis type II (MPS II): Data from the Hunter Outcome Survey (2021) (0)
Estudo in vitro de progenitores hematopoiéticos de medula óssea em ratos Wistar (2006) (0)
Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses (2017) (0)
PREGNANCY-RELATED OUTCOMES IN FEMALES WITH FABRY DISEASE: FABRY OUTCOME SURVEY AND OTHER POSTMARKETING SAFETY DATA (2012) (0)
Medical Genetics – Special issue dedicated to the 35th anniversary of the Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Brazil (2019) (0)
Procedência microrregional dos pacientes com Mucopolissacaridoses identificados pela rede MPS Brasil no estado do Rio Grande do Sul (2012) (0)
Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results. (2023) (0)
A comprehensive program for the diagnosis of Niemann–Pick disease type C in Brazil (NPC Brazil Network) (2013) (0)
Clinical outcomes in idursulfase-treated patients with MPS II: 3-year data from the Hunter Outcome Survey (HOS) (2016) (0)
Rapid improvement of respiratory parameters in a MPS II patient after 6 months of enzyme replacement therapy (2014) (0)
Newborn screening for mucopolysaccharidoses: A pilot study of 2,640 samples (2016) (0)
Prevalence of thrombophilia and thrombotic events in patients with fabry disease in a Reference Center for Lysosomal Disorders in Southern Brazil (2016) (0)
Long term efficacy and safety of pabinafusp-alfa (JR-141) in Hunter syndrome (MPS-II): 104-week data from the clinical trials in Japan and Brazil (2022) (0)
DELAYED MENARCHE AND EARLY MENOPAUSE IN FEMALES WITH FABRY DISEASE (2011) (0)
Ex vivo gene therapy for lysosomal storage disorders: future perspectives (2023) (0)
Expert recommendations for the laboratory diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Diagnostic algorithm and best practice guidelines for a timely diagnosis (2016) (0)
Laboratório de referência de erros inatos do metabolismo : relato de uma experiencia de 12 anos (1994) (0)
Developmental milestones in Hunter syndrome: data from HOS - the Hunter Outcome Survey (2010) (0)
PSY7 EVALUATION OF MEASURES UNDERTAKEN TO ENHANCE THE ROBUSTNESS OF THE FABRY OUTCOME SURVEY (FOS) (2009) (0)
Breast cancer risk estimates using the Gail Model in women from an annual screening program in Southern Brazil. (2006) (0)
Lyso-Gb3 as a biomarker for renal and cardiac involvement in Fabry disease: An analysis from the Fabry Outcome Survey (FOS) (2022) (0)
Contents Vol. 77, 2014 (2014) (0)
PND2 THE FABRY OUTCOME SURVEY (FOS): A DATABASE OF PROSPECTIVE OBSERVATIONS ONTHE NATURAL HISTORY AND MANAGEMENT OF A RARE DISEASE (2008) (0)
Neurophysiological studies in Fabry disease (2002) (0)
Mucopolysaccharidosis Type I in a Dog (2021) (0)
Correction to: Correlation of CSF flow using phase-contrast MRI with ventriculomegaly and CSF opening pressure in mucopolysaccharidoses (2017) (0)
Phase 1/2 open-label, multi-center study to assess the safety, tolerability and efficacy of a single dose of PBGM01 delivered into the cisterna magna of subjects with type 1 (early onset) and type 2a (late onset) infantile GM1 gangliosidosis (2022) (0)
Tratamento de erros inatos do metabolismo Treatment of inborn errors of metabolism (2008) (0)
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA. (2023) (0)
The MPS I Registry - 15 years of service to the community (2019) (0)
Demographic, clinical, and ancestry characterization of a large cluster of mucopolysaccharidosis IV A in the Brazilian Northeast region (2021) (0)
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis type II (MPS II) enrolled in the Hunter Outcome Survey (2023) (0)
A phase 1/2 open-label, multicenter, dose ranging and confirmatory study to assess the safety, tolerability and efficacy of PBKR03 administered to pediatric subjects with early infantile Krabbe disease (globoid cell leukodystrophy; GALax-C) (2022) (0)
1039 Inborn Errors of Metabolism |[lpar]|IEM|[rpar]| in Infants Admitted to Intensive Care Units: A Study About Different Investigational Strategies (2010) (0)
Freqüência da mutação V388M no gene da fenilalanina hidroxilase em pacientes com fenilcetonúria no sul do Brasil (1998) (0)
Detecção de 4 mutações recorrentes a nível mundial no gene CFTR de pacientes com fibrose cística nascidos no sul do Brasil (1999) (0)
COMPARAÇÃO DAS ATIVIDADES DE Β-GLICOSIDASE E QUITOTRIOSIDASE EM PAPEL FILTRO COM AS DE LEUCÓCITOS E PLASMA (2010) (0)
Detecção de desordens no metabolismo de ácidos orgânicos em pacientes brasileiros (2003) (0)
DETECÇÃO DE INDIVÍDUOS ASSINTOMÁTICOS COM X-ADRENOLEUCODISTROFIA EM FAMÍLIAS DE PORTADORES DESTA PATOLOGIA (2005) (0)
Drug delivery across the blood-brain barrier and resultant reduction of heparan sulfate in the cerebrospinal fluid in the patients with Hunter syndrome (MPS II): An integrated analysis of 25-week Japanese and Brazilian data on pabinafusp alfa (JR-141) (2021) (0)
Natural history of Sanfilippo syndrome type B in young patients: Ongoing results from two large, prospective studies (2021) (0)
Detecção molecular da duplicação de 24 PB no gene da quitotriosidase humana : resultados preliminares (2004) (0)
Resultados preliminares da análise molecular no gene IDS de paciente com síndrome de Hunter com suspeita de apresentar um rearranjo complexo. (2009) (0)
Identificação e caracterização de uma nova alteração no gene da fenilalanina hidroxilase (2000) (0)
Avaliação de um novo método fluorimétrico para o diagnóstico bioquímico de pacientes com mucopolissacaridose tipo II (2000) (0)
Rastreio de declínio cognitivo em amostra de pacientes idosos dos ambulatórios do HCPA (2009) (0)
Síndrome do Túnel do Carpo em pacientes com mucopolissacaridoses (2002) (0)
Determinação do pH ótimo da enzima beta-glicosidase de leucócitos de indivíduos com doença de Gaucher (1999) (0)
Caracterização de células encapsuladas quanto à biocompatibilidade in vivo (2008) (0)
Avaliação da atividade e identificação de catepsinas no tecido cardíaco de animais com mucopolissacaridose tipo I (2014) (0)
Caracterização clínica e bioquímica de pacientes com galactosemia clássica (2001) (0)
Síndromes de Li-Fraumeni e Li-Fraumeni-Like : alta prevalência em programas de avaliação de risco genético para câncer no rio Grande do Sul (2006) (0)
Análise genômica do gene GLA em duas famílias com doença de Fabry (2007) (0)
Análise molecular e distribuição geográfica de pacientes brasileiros mucopolissacaridose IVA (2014) (0)
Galactosemia clássica : experiência de 22 anos de diagnóstico (2010) (0)
Diagnóstico das doenças mitocondriais : aplicação de um protocolo sistemático em um grupo de pacientes com forte suspeita clínica dessas patologias (2005) (0)
Report of the first Brazilian patients with MPS IIID, with the observation of an unexpected increase of di-sulfated keratan sulfate (2021) (0)
Avaliação da migração de células de medula óssea em ratos submetidos à lesão hepática fulminante : resultados preliminares (2004) (0)
Dano ao DNA em leucócitos de pacientes com mucopolissacaridose tipo II no pré-tratamento : efeito protetor da terapia de reposição enzimática (2011) (0)
Eficiência das dosagens enzimáticas em fibroblastos no diagnóstico de erros inatos do metabolismo (1993) (0)
Descrição de uma nova mutação no peptídeo sinal do gene IDUA que leva um fenótipo atenuado característico de MPS I (2014) (0)
Lipoperoxidação e defesa antioxidante não enzimática na adrenomieloneuropatia e em portadoras de adrenoleucodistrofia ligada ao x (2008) (0)
Mucopolissacaridose tipo VI : avaliação de testes de estabilidade para análise enzimática e molecular em amostras de sangue impregnado em papel-filtro (2011) (0)
Determinação de parâmetros cinéticos da enzima quitotriosidase em plasma de pacientes com Doença de Gaucher, Doença de Krabbe, gangliosidose GM1 e Doença de Niemann-Pick : comparação com a enzima de indivíduos normais (2006) (0)
Incidência de aminoacidopatias e hipotireoidismo congênito em neonatos no Hospital de Clínicas de Porto Alegre (1995) (0)
Resposta bioquímica terapêutica na doença do xarope do bordo (msud) (1998) (0)
Síndrome de predisposição hereditária ao câncer de mama e ovário (HBOC) e mama e cólon (HBCC) : prevalência em programas de avaliação de risco genético para câncer no Rio Grande do Sul (2006) (0)
Detecção de GFP por espectrofometria de fluorescência e PCR quantitativo (2006) (0)
Efeito do agente removedor de micoplasma (MRA) sobre a atividade da enzima Arilsulfatase A em culturas de fibroblastos de pele (2003) (0)
Avaliação do seguimento clínico dos pacientes com doença de Fabry acompanhados no Hospital de Clínicas de Porto Alegre (2011) (0)
Gangliosidose GM2 : dificuldades no diagnóstico diferencial dos diversos tipos (1998) (0)
Quitotriosidase : uma importante adição para protocolos de triagem de doenças lisossômicas de depósito (2002) (0)
Estudo a longo prazo do implante de células recombinantes encapsuladas superexpressando alfa-L-iduronidase em camundongos com mucopolissacaridose tipo I (2010) (0)
Identificação de rearranjos gênicos em pacientes com doença de Niemann-Pick tipo C (2013) (0)
Detecção simultânea das mutações L444P e R463C em pacientes brasileiros com doença de Gaucher (2002) (0)
Atualizando o código genético : o RNA de interferência - um comentário sobre o Prêmio Nobel de Medicina e Fisiologia de 2006 (2006) (0)
Utilização de marcadores moleculares (STR) de bovinos para identificação genética de animais de raças zebuínas (2005) (0)
Relato de um laboratório de referência no diagnóstico das doenças lisossômicas de depósito (2016) (0)
Avaliação da qualidade e eficiência do DNA extraído de sangue impregnado em papel filtro para uso no diagnóstico molecular de doenças lisossômicas (2017) (0)
Análises in silico para predição do fenótipo na substituição de aminoácidos no gene da GALNS (2013) (0)
A Brazilian patient with late infantile metachromatic leukodystrophy treated with lentiviral hematopoietic stem-cell gene therapy: A report from prenatal diagnosis to early treatment (2023) (0)
Prevalência de rearranjos gênicos em BRCA1 em indivíduos brasileiros com síndrome de predisposição hereditária ao cancêr de mama e ovário (2008) (0)
Ataxias espinocerebelares em 114 famílias do sul do Brasil : achados clínicos e moleculares (2006) (0)
The Mucopolysaccharidoses (2022) (0)
Serviço de informações sobre erros inatos do metabolismo (SIEM) : resultados de 11 anos de fundionamento (2013) (0)
Investigação abrangente do gene GBA para genotipagem de pacientes com doença de Gaucher (2012) (0)
Quitotriosidade em pacientes com Doença de Fabry : um possível marcador bioquímico auxiliar na terapia da reposição enzimática (2002) (0)
Análise de mutações em pacientes sul-americanos com mucopolissacaridose tipo I (2005) (0)
Terapia de reposicao enzimatica iniciada ao nascimento ou na idade adulta em camundongos MPS I : quais os benefícios? (2012) (0)
Detecção de uma deleção de 55pb no gene da B-glicocerebrosidase humana em pacientes com Doença de Gaucher (2001) (0)
Identificação de fatores de risco genéticos para câncer de mama em um estudo de base populacional : resultados preliminares (2006) (0)
Mucopolissacaridose tipo I : fatores de crescimento e resposta astrocitária na disfunção neurológica (2012) (0)
Detecção de acidemias orgânicas na população pediátrica brasileira de 1994 a 2007 (2008) (0)
DOSAGEM DE HOMOCISTEÍNA PLASMÁTICA POR ESPECTROMETRIA DE MASSAS EM TANDEM NO HCPA (2010) (0)
Genética: uma ferramenta indispensável para o pediatra do século XXI (2008) (0)
Uso do sistema CRISPR-Cas9 para corrigir mutações em MPS I (2015) (0)
Terapia gênica : uma nova estratégia para o tratamento de doenças (2001) (0)
Freqüência do polimorfismo de uma região hipervariável (VNTR) do gene da fenilalanina hidroxilase (2002) (0)
Avaliação do perfil funcional dos pacientes com mucopolissacaridose acompanhados pelo serviço de genética médica do Hospital de Clínicas de Porto Alegre (2011) (0)
Galactosemia no estado de São Paulo freqüência, biologia molecular e estudos de benefício e custo: vale a pena triar! (2008) (0)
Estudo dos parâmetros bioquímicos da enzima quitotriosidase em pacientes com doença de Niemann-Pick (2005) (0)
Identificação e quantificação de expansões CAG nos genes de SCA1, SCA2 e SCA6 (2003) (0)
Avaliação da contribuição do cariótipo e da análise molecular para detecção de aneuploidias em fetos polimalformados do HCPA (2010) (0)
Mucopolissacaridose tipo VI : espectro de mutações nos pacientes da rede MPS Brasil (2011) (0)
Síndrome de Mórquio A: estudo do aspecto patogênico de três mutações novas descritas em pacientes brasileiros (2005) (0)
Doença de Fabry em paciente submetido à hemodiálise : dados preliminares de um screening (2005) (0)
Adrenoleucodistrofia ligada ao x : 82 afetados em 30 famílias (2007) (0)
Vigilância epidemiológica dos defeitos baixos de tubo neural no Hospital de Clínicas de Porto Alegre entre 1983 e 1999 : prevalência e fatores de risco associados (2001) (0)
Doença de Gaucher no Rio Grande do Sul : relato da experiência com a implementação do protocolo clínico e diretrizes terapêuticas do Ministério da Saúde (2004) (0)
Determinação de ligantes com afinidade por órgãos específicos mediante "Phage Display" para aplicação em terapia gênica (2004) (0)
Avaliação do limite de detecção de microquimerismo através de microssatélites (STRS) em amostras biológicas (2006) (0)
Metabolome alterations: a tool to assess efficacy in clinical trials for neuronopathic lysosomal disorders? (2017) (0)
ANÁLISE DOS RESULTADOS DE DIAGNÓSTICO PRÉ-NATAL DE MUCOPOLISSACARIDOSES REALIZADOS PELA REDE MPS BRASIL (2010) (0)
Padronização do protocolo de identificação do sítio polimórfico MspI no gene da fenilalanina hidroxilase (2001) (0)
Caracterização imunofenotípica de células da medula óssea de ratos Wistar (2006) (0)
Efeitos da reintrodução da terapia de reposição enzimática (TRE) em modelo Murino de Mucopolissacaridose tipo I (2015) (0)
Efeito do meio condicionado da linhagem HEPG2 em células tronco mesenquimais (2009) (0)
Ataxias espinocerebelares em 114 famílias brasileiras : achados clínicos e moleculares (2006) (0)
Caracterização molecular da deficiência da glicose-6-fosfato disidrogenase (G6PD) em uma amostra de Porto Alegre-RS. Dados preliminares (2005) (0)
Pesquisa de mutações do gene da cadeia pesada da beta-miosina cardíaca (MYH7) numa coorte amhulatorial de cardiomiopatia hipertrófica no Estado do Rio Grande do Sul (2013) (0)
Pesquisa de genes específicos para câncer de mama na população do Rio Grande do Sul. (1996) (0)
Espectro atual de mutações em MPS II de pacientes brasileiros (2007) (0)
Acido oxalico e litiase urinaria : uma investigacao (1980) (0)
Detecção de erros inatos do metabolismo em pacientes de alto risco (1989) (0)
Desenvolvimento de uma abordagem NGS para o diagnóstico genético-molecular das lipofuscinoses ceróides neuronais (2018) (0)
Rede MPS Brasil : uma iniciativa para promover o diagnóstico e facilitar o manejo das mucopolisacaridoses no Brasil (2005) (0)
Espécies reativas ao ácido tiobarbitúrico e reatividade antioxidante total em plasma de pacientes com adrenomieloneuropatia e de mulheres portadoras de adrenoleucodistrofia ligada ao x (2008) (0)
Programa de monitoramento de defeitos congênitos (PMDC) : experiência do estudo colaborativo latino-americano de malformações congênitas (ECLAMC) no HCPA (2002) (0)
Diferenciação in vitro de células tronco embrionárias em células cardíacas (2004) (0)
Análise da mutação deltaF508 em pacientes do Hospital de Clínicas de Porto Alegre com suspeita de fibrose cística (2000) (0)
Caracterização clínica dos casos com diagnóstico de Erros Inatos do Metabolismo através do SIEM (2012) (0)
Coorte Núcleo Mama Porto Alegre (NMPOA) : delineamento de um programa multidisciplinar de identificação de mulheres em risco para câncer de mama hereditário (CMH) em amostra populacional (2006) (0)
Detecção de mutações no gene GLA causando Doença de Fabry (2004) (0)
Estudo dos possíveis mecanismos de atuação mononucleares de medula óssea na lesão hepática aguda (2009) (0)
Programa diagnóstico para doença de Niemann-Pick tipo C no Brasil ? Rede NPC Brasil (2012) (0)
Diagnóstico da doença de Niemann-Pick tipo C = adaptação do método original (2003) (0)
O MLPA como ferramenta de diagnóstico molecular em pacientes com distrofia muscular de Duchenne (2015) (0)
Caracterização de famílias em risco para câncer de mama hereditário no Rio Grande do Sul (2004) (0)
ANÁLISE DO FUNCIONAMENTO DO DISQUE MPS:SERVIÇO TELEFÔNICO GRATUITO DE INFORMAÇÕES SOBRE MUCOPOLISSACARIDOSES (2010) (0)
O resultado da exposição ao misoprostol (Cytotec®) durante a gestação (1997) (0)
Correção da deficiência de ARSA em fibroblastos de pacientes com leucodistrofia metacromática (2008) (0)
Ácidos graxos de cadeia muito longa em pacientes com diferentes formas clínicas de adrenoleucodistrofia ligada ao X : o efeito do Óleo de Lorenzo (2006) (0)
Identificação de novas mutações no gene NPC1 encontradas em pacientes com a Doença de Niemann-Pick tipo C (2016) (0)
Efeito sobre os receptores de manose-6-fosfato em fibroblastos de pacientes com leucodistrofia metacromática, após tratamento com Arilsulfatase A recombinante (2010) (0)
Estudo bioquímico e epidemiológico das mucopolissacaridoses no Brasil (1994) (0)
GENE EDITING OF FIBROBLAST-LIKE SYNOVIOCYTES FROM MUCOPOLYSACCHARIDOSIS TYPE I MICE WITH THE CRISPR-CAS9 SYSTEM (2021) (0)
Investigação de pacientes com deficiência de lipase ácida lisossomal : experiência de um centro de referência (2015) (0)
Cartas ao editor : [O Serviço de Genética Médica do Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, é um centro de referência internacional para o diagnóstico e tratamento das Mucopolissacaridosis (MPS) ...] : (2007) (0)
Diagnóstico laboratorial da Doença de Gaucher no Brasil (2005) (0)
Long-term multisystemic efficacy with migalastat in ERT-naive and ERT-experienced patients with amenable variants (2022) (0)
Triagem molecular das mutações L72R e R315Q em pacientes com mucopolissacaridose tipo VI do Brasil, inseridos na Rede MPS (2010) (0)
ANÁLISE MOLECULAR DE 12 PACIENTES COM DOENÇA DE GAUCHER: IDENTIFICAÇÃO DE MUTAÇÕES RARAS (2009) (0)
Anfotericina B induz morte e diminui a proliferação de células estreladas hepáticas (2012) (0)
Análise molecular dos genes NPC1 e NPC2 em pacientes com a doença de Niemann-Pick tipo C (2013) (0)
Adrenoleucodistrofia ligada ao X : investigação clínica e laboratorial em 15 pacientes brasileiros (1999) (0)
Novas mutações em pacientes com gangliosidose GM1 (2005) (0)
Avaliação do seguimento clínico dos pacientes com mucopolissacaridose tipo II acompanhados no Hospital de Clínicas de Porto Alegre (2011) (0)
A mutação R261X no gene da fenilalanina hidroxilase : freqüência elevada no sul do Brasil (1999) (0)
A eficácia do tratamento com óleo de lorenzo em pacientes assintomáticos portadores de adrenoleucodistrofia ligada ao x (2006) (0)
Mucopolissacaridoses : revisão epidemiológica dos casos diagnosticados em um laboratório de referência nacional (2002) (0)
Projeto-piloto de triagem neonatal para MPS VI em uma área de alta incidência no nordeste do Brasil : resultados de 1200 análises (2013) (0)
Gene NPC1 : identificação de novas variações na coorte brasileira de pacientes com a doença de Niemann-Pick tipo C (2014) (0)
Uso de gliceroltrioleato/gliceroltrierucato e/ou lovastatina em pacientes com adrenoleucodistrofia (2001) (0)
Estratégias para genotipagem de MPS II (2008) (0)
Freqüência de doenças lisossômicas de depósito no laboratório de erros inatos do metabolismo do HCPA (1998) (0)
Cloranfenicol aumenta a atividade de alfa-L-iduronidase em fibroblastos de pacientes com mucopolissacaridose tipo I (2011) (0)
Avaliação da migração de células-tronco de medula em ratos submetidos à lesão hepática fulminante (2004) (0)
Arisulfatase c e o diagnostico de ictiose recessiva ligado ao x (1996) (0)
Triagem de novas mutações em pacientes com gangliosidose GM1 através da análise do polimorfismo conformacional de fita simples de DNA (SSCP) (2004) (0)
Comparação entre o diagnóstico genético e bioquímico em mulheres com suspeita de Doença de Fabry por Curva ROC (2011) (0)
Análise da adesão ao tratamento de pacientes com fenilcetonúria atendidos em um ambulatório universitário de referência (2008) (0)
Perfil epidemiológico das doenças lisossômicas de depósito no Brasil (1993) (0)
Detecção de adrenoleucodistrofia ligada ao cromossomo x em uma população brasileira de alto risco (2007) (0)
Efeitos da inibição da catepsina B sobre a doença cardíaca e valvular em camundongos com mucopolissacaridose tipo I (2016) (0)
Consistência do relato da história de câncer em familiares de primeiro grau em uma amostra de mulheres com risco genético para câncer de mama (2006) (0)
Galactosemia: vale a pena triar ? (2006) (0)
Diagnóstico das mutações comuns em gangliosidose GM1 por PCR arms-multiplex (2004) (0)
Diagnóstico molecular em pacientes com doença de Machado-Joseph (2000) (0)
Caracterização bioquímica da enzima quitotriosidade : comparação entre indivíduos normais e pacientes com as doenças de Gaucher e de Niemann-Pick (2004) (0)
Experiência de 10 anos na análise molecular de pacientes com mucopolissacaridose tipo II (MPSII) (2005) (0)
Apêndices e fossetas pré-auriculares : existe alguma correlação destes achados com défict auditivo ou malformações renais em nossa população? (2001) (0)
Aspectos clínicos e bioquímicos da adrenoleucodistrofia ligada ao X em pacientes brasileiros (2002) (0)
Efeito do óleo de lorenzo nos níveis plasmáticos dos ácidos graxos de cadeia muito longa em pacientes com adrenoleucodistrofia/ adrenomieloneuropatia (2001) (0)
Efeito in vitro do Óleo de Lorenzo sobre alguns parâmetros de estresse oxidativo em córtex e fígado de ratos jovens (2003) (0)
DETERMINAÇÃO DE ACILCARNITINAS E AMINOÁCIDOS EM SANGUE POR ESPECTROMETRIA DE MASSAS EM TANDEM NO HCPA (2010) (0)
Detecção de aminoacidopatias em pacientes brasileiros de alto risco (2002) (0)
Homing de células da médula analisado por espectroscopia de fluorescencia em ratos wistar: comparação de duas vias distintas de administração (2005) (0)
Vetores não-virais do sistema CRISPR/CAS9 para terapia gênica de camundongos MPS I (2018) (0)
Herniorrafia em crianças com mucopolissacaridose (MPA) (2004) (0)
Resultados de 15 anos de um serviço gratuito para informações e suporte em erros inatos do metabolismo (2017) (0)
DETECÇÃO DE ERROS INATOS DO METABOLISMO EM PACIENTES DE RISCO POR ESPECTROMETRIA DE MASSA EM TANDEM NO HCPA (2009) (0)
P0205 MOLECULAR ANALYSIS OF THE PI*Z AND PI*S ALLELES IN BRAZILIAN CHILDREN WITH CHRONIC LIVER DISEASE (2004) (0)
Estudo sobre o aprendizado do método científico com os integrantes do Centro de Terapia Gênica do Hospital de Clínicas de Porto Alegre (2008) (0)
Identificação de mutações no gene CFTR por sequenciamento de nova geração (2015) (0)
Caracterização bioquímica da alfa-iduronidase de plasma de heterozigotos para MPS I não Hurler e indivíduos normais (2000) (0)
Avaliação de quimerismo por análise de microssatélites em pacientes submetidos à transfusão sanguínea (2005) (0)
Evidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice (2020) (0)
Doença de niemann-pick tipo c : correlação entre o teste do filipin, a medida da quitotriosidase e o biomarcador colestano-3Β,5Α,6Β-triol (TRIOL) (2016) (0)
Idade ao diagnóstico da doença de Niemann-Pick tipo C : dados obtidos pela rede NPC Brasil ao longo de 4 anos de funcionamento (2013) (0)
How complete is our clinical assessment of patients with mucopolysaccharidosis type II in real life? A question from the Hunter Outcome Survey (HOS) (2022) (0)
Diagnósticos de erros inatos do metabolismo obtidos em 2006 com o auxílio do sistema informatizado (2007) (0)
Validação de uma nova abordagem para o diagnóstico de doenças lisossômicas selecionadas por sequenciamento de nova geração (2015) (0)
Erros inatos do metabolismo diagnosticados em crianças internadas no HCPA no ano 2000 (2001) (0)
Análise epidemiológica dos pacientes diagnosticados com erros inatos do metabolismo através do SIEM (2008) (0)
Evidência do envolvimento de estresse oxidativo na adrenoleucodistrofia (2003) (0)
Relato de 557 casos da doença de Gaucher no Brasil diagnosticados bioquimicamente (2006) (0)
Caracterização bioquímica da enzima quitotriosidase em plasma de indivíduos normais através da determinação do Km, Vmax, termoestabilidade e pH ótimo da enzima (2002) (0)
Erros inatos do metabolismo em lactentes brasileiros com icterícia colestática : dados da Rede de EIM do HCPA em um período de 1 ano (2012) (0)
Determinação do nível de glicosaminoglicanos em soro de pacientes com mucopolissacaridoses (2008) (0)
Efeito in vitro de longa e curta duração da gentamicina sobre fibloblastos cultivados de paciente com síndrome de Hurler com mutação stop-codon prematura do gene IDUA (2008) (0)
PRENATAL DIAGNOSIS FOR FETAL CHROMO- SOMAL ABNORMALITIES: REPORT OF 18-YEAR EXPERIENCE IN A BRAZILIAN PUBLIC HOSPI- (2015) (0)
Análise molecular de seis pacientes com Doença de Fabry (2005) (0)
Doença de Fabry : estado nutricional dos pacientes atendidos no serviço de genética médica (2011) (0)
Validação da coleta de sangue durante a hemodiálise para análise da atividade enzimática da alfa-gal-A (2005) (0)
Avaliação do estresse oxidativo e das defesas antioxidantes em fenilcetonúricos (2005) (0)
Análise molecular de fenilcetonúria no sul do Brasil : freqüência da mutação R261Q e correlação genótipo-fenótipo (1999) (0)
Integração da genética médica com a atenção primária à saúde : uma estratégia multifacetada de suporte (Alô genética) (2015) (0)
81 Cardiac findings in MPS VI patients after enzyme replacement therapy (2007) (0)
Mutações nos genes NPC1 e NPC2 e a Doença de Niemann-Pick tipo C (2015) (0)
FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER DOENÇA DE FABRY: DIAGNÓSTICO DE UMA DOENÇA RARA (2017) (0)
Serviço de informação sobre erros inatos do metabolismo : análise de um serviço pioneiro no Brasil (2004) (0)
Identificação e caracterização molecular do gene ABCD1 em famílias com adrenoleucodistrofia ligada ao X (2009) (0)
Frequências alélicas de mutações e polimorfismos nos genes NPC1 e NPC2 de pacientes com suspeita para a Doença de Niemann-Pick tipo C (2014) (0)
Tirosinemia hereditária tipo 1 tratada com NTBC (2002) (0)
Adrenoleucodistrifia ligada ao X : análise genômica de uma série de casos em famílias Brasileiras (2007) (0)
Prevalência das variantes mutantes, S e Z, da enzima Alfa-1-Antitripsina em pacientes com hepatopatias do serviço de gastropediatria do Hospital de Clínicas de Porto Alegre (2005) (0)
Estudo do ph ótimo da enzima B-galactosidase (1996) (0)
Caracterização imunofenotípica de células mesenquimais e de medula óssea de ratos isogênicos lewis (2007) (0)
Caracterização bioquímica da enzima quitotriosidase em plasma de pacientes com a doença de Gaucher (2003) (0)
Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA (2013) (0)
Resultados de glicogenose de um serviço gratuito de informações em erros inatos do metabolismo no Brasil (2017) (0)
Design, Baseline Characteristics, and 2-Year Follow-up from The MPS IIIA Natural History Study Used as Control Group in Gene Therapy Trial (2019) (0)
Avaliação da expressão de IDUA em fibroblastos de pacientes com MPS I, após tratamento com geneticina ou cloranfenicol (2010) (0)
Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice (2019) (0)
Lovastatina e seus efeitos sobre o estresse oxidativo em ratos jovens (2002) (0)
Aumento de S100B no líquido amniótico em gestações com fetos portadores de síndrome de Down (2002) (0)
Implementação de histórias em quadrinhos que retratam procedimentos científicos no centro de terapia gênica (2008) (0)
Padronização de PCR arms-multiplex para o diagnóstico de duas mutações comuns em pacientes brasileiros com gangliosidose GM1 (2003) (0)
Avaliação bioquímica e de estresse oxidativo em pacientes com doença do xarope do bordo durante o tratamento dietético (2007) (0)
Estresse oxidativo na adrenoleucodistrofia ligada ao X : efeito do óleo de Lorenzo em pacientes (2004) (0)
Avaliação do estresse oxidativo em córtex cerebral de ratos adicionados com ácido hexacosanóico e tetracosanóico : efeito in vitro dos ácidos oleico e erúcico (2004) (0)
Caracterização haplotípica em indivíduos do Rio Grande do Sul através de short tandem repeats (STRS) localizados no cromosssomo Y (2006) (0)
Detecção de heterozigotos para MPS II (doença de Hunter) através da biologia molecular (1998) (0)
Tratamento com losartana melhora alterações cardiovasculares e craniofaciais em camundongos com mucopolissacaridoses I (2018) (0)
A doença cardiovascular pode ser melhorada após tratamento com losartana na mucopolissacaridoses I (2018) (0)
Semelhança entre os perfis de cromatografia de oligossacarídeos urinários de cabras com doença neurodegenerativa e da alfa-manosidose humana (2002) (0)
Caracterização e expressão de mutações encontradas no gene codificador da beta-galactosidase (2010) (0)
Alô genética : estratégia de suporte em genética para profissionais que trabalham com atenção primária a saúde (2013) (0)
Terapia gênica para doenças lisossômicas de depósito (2004) (0)
A comprehensive and nationwide study of Hunter disease in Brazil (2002) (0)
Análise de mutações freqüentes em pacientes latino americanos com mucopolissacaridose tipo I (2007) (0)
Clinical outcomes after switching to migalastat from agalsidase alfa or agalsidase beta in patients with Fabry disease: Post hoc analysis from ATTRACT (2019) (0)
Coorte Núcleo Mama Porto Alegre (NMPOA) : avaliação de fatores de risco para câncer de mama em 750 mulheres com idade entre 40 e 69 anos (2006) (0)
Programa de monitoração de defeitos congênitos do Hospital de Clínicas de Porto Alegre : um estudo caso-controle de 1993 a 2001 (2002) (0)
Comparação entre os níveis de homocisteína, vitamina b12 e ácido fólico no plasma de pacientes com doença de parkinson e em controles normais (2008) (0)
Terapia gênica não-viral transitória para mucopolissacaridose tipo I em fibroblastos humanos (2007) (0)
Fatores de risco para câncer de mama em mulheres submetidas a rastreamento mamográfico no sul do Brasil (2006) (0)
Efeito da gentamicina sobre a atividade enzimática em genes de indivíduos com mutações sem sentido: resultados preliminares (2005) (0)
Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) (2023) (0)
Análise de seis novas mutações em pacientes com gangliosidose GM1 (2006) (0)
Investigação de teratogenicidade da hiperfenilalaninemia materna benigna (1992) (0)
Utilização de PCR em tempo real quantitativo como método de detecção de portadoras de Mucopolissacaridose tipo II (2016) (0)
Análise das expansões trinucleotídicas CAG nos genes de SCA1, SCA2 e SCA6 (2004) (0)
Liberação de S100B in vitro modulada por adrenalina (2003) (0)
Adrenoleucodistrofia ligada ao X : efeiro in vitro da lovastatina sobre o estresse oxidativo em córtex e fígado de ratos jovens (2002) (0)
Detecção bioquímica de defeitos de b-oxidação mitocondrial de ácidos graxos em pacientes com perfil clínico-laboratorial sugestivo de erros inatos do metabolismo (2002) (0)
Alta incidência da acidúria 3-hidroxi-3-metilglutárica no Brasil (2001) (0)
Perfil genético de pacientes Latino Americanos com Doença de Fabry (2016) (0)
Diagnóstico de acidemias orgânicas em pacientes de alto risco no Brasil (1995) (0)
Detecção de erros inatos do metabolismo de ácidos orgânicos em pacientes de alto risco no Brasil (1996) (0)
Triagem neonatal para mucopolissacaridose tipo VI em uma região com alta incidência da doença (2010) (0)
Análise da aderência ao tratamento da fenilcetonúria : estudo de uma amostra do ambulatório de distúrbios metabólicos do Serviço de Genética Médica do HCPA (2007) (0)
Caracterização genotípica de pacientes brasileiros com leucodistrofia metacromática e dinâmica estrutural da arilsulfatase A (2010) (0)
Isolamento de hepatócitos de ratos wistar através da digestão enzimática com tripsina a 4ºC (2004) (0)
Associação de polimorfismos dos sistemas gabaérgicos e serotoninérgicos com variabilidade da resposta terapêutica às drogas utilizadas para tratar sintomas comportamentais (antipsicóticos e anti-epilépticos) na doença de Alzheimer (2009) (0)
Avaliação molecular de pacientes com suspeita de doença mitocondrial (2003) (0)
259 SLEEP EVALUATION IN PATIENTS WITH MUCOPOLYSACCHARIDOSIS TYPE VI (2009) (0)
Comparação de dois meios de cultivo para manter células da fração mononuclear da medula óssea encapsuladas em co-cultivo com hepatócitos (2010) (0)
Unraveling the Leukodystrophies: Clinical, Biochemical and Molecular Studies of Sixty Brazilian Patients with Genetic White Matter Disorders (2012) (0)
Consolidação de um Projeto Piloto de Identificação de Fatores de Risco para Câncer de Mama Hereditário de Base Populacional Vinculado ao Programa de Saúde da Família (2009) (0)
Distribuição de mutações comuns no gene da PAH em pacientes com fenilcetonúria do sul do Brasil (2010) (0)
Estudo da associação do polimorfismo TGFA Taq I e fatores ambientais nas fissuras orais não sindrômicas no sul do Brasil (2010) (0)
Correção da mucopolissacaridose tipo I em fibroblastos humanos após tratamento com microcápsulas de alginato contendo células superexpressando alfa-L-iduronidase (2007) (0)
Defeitos congênitos em recém-nascidos no Hospital de Clinicas de Porto Alegre: um estudo de 93 a 98 (1999) (0)
Determinação das freqüências de short tandem repeats (STRS) no cromossomo Y em indivíduos do Rio Grande do Sul (2005) (0)
Padronização da técnica de detecção de células CD34 de medula óssea de ratos wistar (2006) (0)
Avaliação da biocompatibilidade e viabilidade de microcápsulas de alginato contendo diferentes linhagens celulares (2010) (0)
Lipoperoxidação e Conteúdo de Tióis em pacientes com Doenças do Espectro Zellweger (2009) (0)
Superexpressão de receptores de manose-6-fosfato em fibroblastos tratados com meio condicionado de células BHK expressando Arilsulfatase A (2012) (0)
Análise dos dados de um programa de triagem neonatal realizado no Hospital de Clínicas de Porto Alegre (1998) (0)
Perfil cromatográfico de oligossacarídeos na urina, atividade da alfa manosidade leucocitária e estudo histológico de caprinos intoxicados com Sida carpinifolia (2004) (0)
Sistema Nacional de Informação sobre Agentes Teratogênicos/Porto Alegre : avaliação dos primeiros três anos de funcionamento (1993) (0)
ANÁLISE MOLECULAR DO GENE DA ARILSULFATASE A EM TRÊS FAMÍLIAS COM SUSPEITA CLÍNICA DE LEUCODISTROFIA METACROMÁTICA (2013) (0)
MONITORIZAÇÃO DOS NÍVEIS DE HOMOCISTEÍNA POR ESPECTROMETRIA DE MASSAS EM TANDEM NO HCPA (2009) (0)
Terapia celular para falência hepática aguda (2005) (0)
Análise das mutações presentes no gene da arilsulfatase B (ARSB) em pacientes com mucopolissacaridose tipo VI (2005) (0)
Investigação da autoimunidade em camundongos com mucopolissacaridose tipo I (2012) (0)
Estratégia prática para identificação de mutações comuns em MPS IVA (2012) (0)
Estresse oxidativo em pacientes com diferentes formas clínicas de adrenoleucodistrofia ligada ao X (2006) (0)
Serviço de informações sobre erros inatos do metabolismo (SIEM- 0800.5102858) : dados epidemiológicos de 10 anos de funcionamento (2010) (0)
Isolamento de células testiculares de ratos a partir de digestão enzimática utilizando tripsina a 4º C (2004) (0)
Avaliação de parâmetros de estresse oxidativo na adrenoleucodistrofia (2003) (0)
Análise de alterações nos domínios de ligação de nucleotídeos (NBD1 e NBD2) no gene da fibrose cística (2002) (0)
Pacientes portadores de Doença do Xarope do Bordo sob tratamento dietético : perfil bioquímico e de estresse oxidativo (2007) (0)
Predição da consequência de substituição de aminoácidos do gene IDS através da análise in silico (2014) (0)
Detecção de acidemias orgânicas no Brasil (2008) (0)
Prevalência de mutações fundadoras nos genes brca1 e brca2 entre indivíduos de alto-risco para a síndrome de predisposição hereditária ao câncer de mama e ovário (2008) (0)
Avaliação de função renal e cardíaca em pacientes com Doença de Fabry tratados com terapia de reposição enzimática (2016) (0)
Efeitos da interrupção da TRE sobre a função cardíaca no modelo Murino de MPS I (2014) (0)
Coorte Núcleo Mama Porto Alegre (NMPOA) : estimativa de risco para câncer de mama através do modelo de Gail em mulheres assintomáticas atendidas no programa de rastreamento mamográfico (2006) (0)
Distúrbios ligados a alterações no metabolismo detectados numa amostra de 10.000 indivíduos de alto risco (1995) (0)
Polimorfismos nos genes das proteinas de transporte de ânions orgânicos em neonatos ictéricos : análises de casos e controles (2011) (0)
AB0137 Characterization of joint disease in mucopolysaccharidosis type I mice and the effects of enzyme replacement therapy (2013) (0)
Fibrose cística no sul do Brasil : incidência da mutação ΔF508 na nossa população (1998) (0)
SERVIÇO DE INFORMAÇÕES SOBRE ERROS INATOS DO METABOLISMO- 2014 (2015) (0)
Protocolo de identificação de mutações raras no gene da glicocerebrosidase em pacientes com doença de Gaucher (2006) (0)
Confirmação do aspecto patogênico de duas mutações novas descritas em pacientes brasileiros com MPS IVA (2004) (0)
Um ensaio clínico randomizado para avaliar os efeitos da losartana na doença cardiovascular em pacientes com mucopolissacaridoses IVA E VI (2019) (0)
INVESTIGAÇÃO BIOQUÍMICA DAS MUCOPOLISSACARIDOSES: RELATO DA EXPERIÊNCIA DA REDE MPS BRASIL (2009) (0)
Sistema CRISPR-Cas9 para correção de mutações em células de pacientes com MPS I (2016) (0)
Uma experiência terapêutica no manejo da doença da urina do xarope do bordo (1995) (0)
Detecção da mutação E8SJM, por PCR em tempo real, no gene LIPA relacionado à Doença de Depósito de Ésteres de Colesterol (2016) (0)
Identificação e caracterização de mutações no gene CDKN2A em pacientes de risco para melanoma hereditário (2003) (0)
Efeito do micoplasma sobre a atividade da enzima arilsulfatase A em culturas de fibroblastos humanos (2004) (0)
Prediction of the molecular consequences of aminoacid substitutions in the GALNS gene using in silico tools (2014) (0)
A pilot study for introduction of galactosemia neonatal screening in Brazil (2006) (0)
Enzima quitotriosidase : estudo de parâmetros bioquímicos em indivíduos normais e pacientes com gangliosidose GM1 (2006) (0)
Avaliação do uso de células de medula em modelo animal de lesão hepática aguda induzida por paracetamol (2007) (0)
Estabelecimento de um protocolo para análise de haplótipos em pacientes com mucopolissacaridose tipo VI (2005) (0)
Uso do óleo de Lorenzo no tratamento da adrenoleucodistrofia (1998) (0)
Agentes teratogênicos e defeitos congênitos no Brasil: dados preliminares (1990) (0)
Composição para terapia gênica do sistema nervoso central, processo de obtenção e uso da mesma (2017) (0)
Galactosemia-incidência, estudos de benefício e custo e biologia molecular: vale a pena triar! (2007) (0)
Padronização das técnicas de extração de DNA e PCR em amostras de sangue impregnado em papel-filtro para análise molecular de Mucopolissacaridose tipo VI em uma região com alta incidência da doença (2012) (0)
Terapia com células-tronco em infarto do miocárdio experimental : caracteristicas quantitativas e qualitativas das células tronco de medula óssea (2007) (0)
Doença de Niemann-Pick Tipo C : um caso de heterogeneidade de fenótipos neuronais? (2010) (0)
Identificação do sítio polimórfico PvuIIa no gene da fenilalanina hidroxilase (2001) (0)
Evidência de estresse oxidativo em portadoras de Adrenoleucodistrofia ligada ao X (2007) (0)
Caracterização de um possível cluster geográfico da Mucopolissacaridose IVA no Brasil (2016) (0)
Atividade da alfa-manosidade em doença neurodegenerativa de caprinos induzida pelo consumo de Sida carpinifolia (2003) (0)
Avaliação do espectro mutacional de 20 famílias com adrenoleucodistrofia ligada ao X (2008) (0)
Detecção de mutações presentes em pacientes com Doença de Fabry (2003) (0)
Estudo da atividade da Beta-galactosidade em fibroblastos e leucócitos em uma família com múltiplos casos de gangliosidose GM1 (1990) (0)
Expressão de um gene marcador em fígado de rato wistar após administração com lipossomos (2005) (0)
A concentração de S100b e atividade da SOD no líquido aminiótico de fetos com trissomia do cromossomo 21 (2004) (0)
Medida de quitotriosidase no plasma : um biomarcador útil na avaliação de pacientes com suspeita de doença de Niemann-Pick tipo C (2011) (0)
Indução de neurogênese in vitro a partir de células tronco embrionárias de camundongo (2004) (0)
Estudo de transferência gênica não viral ao ligamento quadricipital lesado de ratos (2004) (0)
Alterações comportamentais, GAG urinários e sobrevida no modelo murino de mucopolissacaridose tipo I (2011) (0)
DIAGNÓSTICO DE ACIDEMIAS ORGÂNICAS NO BRASIL: UM ESTUDO DE 14 ANOS (2009) (0)
Manejo da apnéia do sono em um paciente com mucopolissacaridose (2003) (0)
Endoscopia respiratória em pacientes com mucopolissacaridose (2004) (0)
Prevalência dos alelos mais comuns da deficiência de alfa-1-Antitripsina em pacientes do serviço de gastropediatria (2007) (0)
Chapter 8 Enzyme Replacement Therapy for Lysosomal Storage Diseases (2011) (0)
Mucolipidose II e III no Brasil : revisão de 22 casos diagnosticados por um centro de referência (2008) (0)
Avaliação da citotoxicidade em diferentes tipos celulares após transfecção com lipoplexo (2005) (0)
Perfil de risco genético para câncer de mama de uma população de mulheres da zona sul de Porto Alegre (2005) (0)
Detecção de X-ALD em pacientes de alto risco : uma abordagem clínico-laboratorial (2002) (0)
Análise de mutações comuns em pacientes com MPS III A e B. (2008) (0)
Efeitos da terapia de reposição enzimática com início tardio no modelo miurino de mucopolissacaridose do tipo I (2013) (0)
Determinação de GFP por espectoftometria de fluorescência (2005) (0)
Nova era da medicina genômica (2001) (0)
Efeito do micoplasma sobre a atividade da enzima beta-galactosidase em cultura de fibroblastos humanos (2003) (0)
Doença de Niemann-Pick por deficiência de esfingomielinase : diagnóstico e caracterização inicial dos pacientes identificados (2004) (0)
Screening de mulheres com suspeita de Doença de Fabry : comparação entre o método molecular e o bioquímico (2012) (0)
Brazilian information service for inborn errors of metabolism (SIEM): Overview after ten years of operation (2013) (0)
The impact of providing rare disease educational programs in resource-limited settings (2020) (0)
Lyso-Gb1 levels in sisters with Gaucher disease type 1: A case report (2021) (0)
Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease (2021) (0)
Galsulfase for mucopolysaccharidosis type VI: analysis of clinical data since 2000 (2014) (0)
Genome Editing: Potential Treatment for Lysosomal Storage Diseases (2015) (0)
Author Index to Abstracts (1994) (0)
Utilization of next generation sequencing technology for detection of mosaic variants in the IDS gene (2023) (0)
Intellectual disability and dysmorphisms in a child with 14q32.31-q32.33 deletion: a case report (2021) (0)
Oxysterol measurement in plasma: A potentially useful tool for the screening of Niemann–Pick disease type C disease (2015) (0)
Análise molecular de pacientes com Mucopolissacaridose Tipo I no Brasil (2016) (0)
Newborn screening for six lysosomal diseases: Pilot study in Brazil (2020) (0)
Plain language summary of a study looking at the age at diagnosis and time to start of treatment in individuals with mucopolysaccharidosis type I (MPS I) (2022) (0)
Position paper of the undiagnosed diseases network international with respect to the establishment of the journal Rare-Open research in rare diseases (2023) (0)
The RETRIEVE Study: A natural history study of type 2 Gaucher disease, and GM1 and GM2 gangliosidoses with early onset, in preparation of a clinical trial (2021) (0)
An information service on teratogenic agents in Brazil. (1992) (0)
Cariótipo 47,XYY em pacientes com quadro clínico de Síndrome de Turner (2002) (0)
Endocrine Disorders Emerging treatment options for the mucopolysaccharidoses (2012) (0)
Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat (2016) (0)
Behavioral improvement in a 9-year-old patient with MPS II undergoing enzyme replacement therapy with pabinafusp alfa: A case report (2022) (0)
Alder-reilly anomaly in patients with Mucopolysaccharidosis VI (2008) (0)
Screening for Niemann-Pick disease type C in Latin American using Lyso-SM-509 measurement in dried blood spots (2021) (0)
Non-viral gene transfer to the tendon : comparison of two methods (2012) (0)
Molecular Genetics and Metabolism (2017) (0)
DDDT_A_207856 3705..3715 (2019) (0)
1029 Polymorphic Variants of Ugt1A1 in Neonatal Jaundice in Southern Brazil (2010) (0)
Losartan improves cardiovascular disease in mucopolysaccharidosis type I (2017) (0)
Screening for MPS VI in a high-incidence area of Northeast Brazil: Report of the first 1,000 newborns tested (2013) (0)
Prenatal diagnosis of Pompe disease (2023) (0)
Um protocolo não radioativo para detecção de deleções no DNA mitocondrial humano (2002) (0)
Quantification of glycosaminoglycans by liquid chromatography tandem mass spectrometry is a useful tool for screening of GlcNAc-phosphotransferase deficient patients (2020) (0)
Trends in age of diagnosis and time to treat for MPS I (2020) (0)
The effect of Mycoplasma and mycoplasma removal agent on the hydrolase activity in fibroblasts of patients with lysosomal diseases. (2010) (0)
Cloramphenicol: A pharmacological chaperone? (2012) (0)
24. The prevalence and characterization of respiratory involvement in patients with Hunter syndrome in the Hunter Outcome Survey (2010) (0)
Author response for "Genotype Phenotype Relationships in Mucopolysaccharidosis Type I: Insights from the International MPS I Registry" (2019) (0)

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