Robert J. Desnick | Academic Influence

Robert J. Desnick's AcademicInfluence.com Rankings

Robert J. Desnick

Biology

#3553

World Rank

#5417

Historical Rank

#1433

USA Rank

Genetics

#289

World Rank

#341

Historical Rank

#133

USA Rank

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Biology

Robert J. Desnick's Degrees

Bachelors Biology City College of New York

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Why Is Robert J. Desnick Influential?

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According to Wikipedia, Robert J. Desnick is an American human geneticist whose basic and translational research accomplishments include significant discoveries in genomics, pharmacogenetics, gene therapy, personalized medicine, and the treatment of genetic diseases. His translational research has led to the development of the enzyme replacement therapy and the chaperone therapy for Fabry disease, ERT for Niemann–Pick disease type B, and the RNA Interference Therapy for the Acute Hepatic Porphyrias.

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Robert J. Desnick'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

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease. (2001) (1110)
Pycnodysostosis, a Lysosomal Disease Caused by Cathepsin K Deficiency (1996) (974)
High incidence of later-onset fabry disease revealed by newborn screening. (2006) (889)
Fabry Disease, an Under-Recognized Multisystemic Disorder: Expert Recommendations for Diagnosis, Management, and Enzyme Replacement Therapy (2003) (671)
A pharmacogenetic versus a clinical algorithm for warfarin dosing. (2013) (667)
Recommendations for the Diagnosis and Treatment of the Acute Porphyrias (2005) (491)
Agalsidase-Beta Therapy for Advanced Fabry Disease (2007) (486)
Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease (1995) (452)
The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. (1989) (423)
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening (2001) (421)
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. (2003) (413)
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel (2004) (409)
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease. (2007) (402)
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. (2001) (386)
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. (2004) (378)
An atypical variant of Fabry's disease with manifestations confined to the myocardium. (1991) (371)
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. (2000) (364)
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. (2001) (323)
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy (2009) (319)
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. (2002) (313)
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome (2001) (312)
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later‐onset GLA mutation c.936+919G>A (IVS4+919G>A) (2009) (312)
Cytogenetic results from the U.S. collaborative study on CVS (1992) (311)
Actionable exomic incidental findings in 6503 participants: challenges of variant classification (2015) (308)
Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes. (1973) (307)
Fabry disease revisited: Management and treatment recommendations for adult patients. (2018) (296)
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. (2013) (293)
Genetics of peanut allergy: a twin study. (2000) (286)
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease (2015) (266)
Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics (2001) (236)
Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease (2018) (233)
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study (2013) (232)
Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges. (2012) (229)
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. (1993) (227)
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders (2002) (224)
Enzyme replacement and enhancement therapies for lysosomal diseases (2004) (218)
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome (1999) (205)
A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. (1992) (200)
Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase (1996) (199)
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice. (2001) (192)
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. (1991) (191)
The porphyrias: advances in diagnosis and treatment. (2012) (189)
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme. (1986) (186)
Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. (1987) (183)
Fabry Disease , an UnderRecognized Multisystemic Disorder : Expert Recommendations for Diagnosis , Management , and Enzyme Replacement Therapy (2003) (162)
Afamelanotide for Erythropoietic Protoporphyria. (2015) (160)
Lead Binding to δ-Aminolevulinic Acid Dehydratase (ALAD) in Human Erythrocytes (1997) (159)
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria (2019) (158)
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups. (2010) (154)
Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. (2014) (151)
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. (2002) (150)
A Genome-Wide Scan of Ashkenazi Jewish Crohn's Disease Suggests Novel Susceptibility Loci (2012) (148)
The ocular manifestations in Fabry's disease. (1979) (147)
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region. (1988) (145)
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene. (1989) (145)
β-Glucuronidase Deficiency in a Dog: a Model of Human Mucopolysaccharidosis VII (1984) (144)
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat (2016) (144)
The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes. (1991) (143)
A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B (2008) (143)
Types A and B Niemann-Pick disease. (2017) (142)
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. (2008) (142)
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis. (1999) (141)
Determination of Bone Markers in Pycnodysostosis: Effects of Cathepsin K Deficiency on Bone Matrix Degradation (1999) (140)
The Natural History of Type B Niemann-Pick Disease: Results From a 10-Year Longitudinal Study (2004) (139)
Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning. (1991) (139)
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. (2002) (137)
Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. (1990) (137)
Fabry disease: Characterization of α‐galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele (2003) (136)
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts. (1989) (135)
Nucleotide sequence of the human a-galactosidase A gene (1989) (134)
Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations (2006) (131)
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases (2010) (131)
Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes (1997) (128)
Infusion of recombinant human acid sphingomyelinase into Niemann‐Pick disease mice leads to visceral, but not neurological, correction of the pathophysiology (2000) (127)
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion (1992) (126)
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. (2003) (125)
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice. (2004) (124)
Molecular basis of fabry disease: Mutations and polymorphisms in the human α‐galactosidase A gene (1994) (122)
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. (2010) (121)
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes. (2000) (119)
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). (1992) (118)
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene. (1990) (116)
Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism (1970) (116)
Glutamate dehydrogenase deficiency in three patients with spinocerebellar syndrome (1980) (115)
Cardiac Valvular Anomalies in Fabry Disease: Clinical, Morphologic, and Biochemical Studies (1976) (114)
Bone density in type 1 gaucher disease (1996) (113)
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene. (1994) (111)
Human delta-aminolevulinate dehydratase: nucleotide sequence of a full-length cDNA clone. (1986) (109)
Lipid abnormalities in children with types A and B Niemann Pick disease. (2004) (107)
Echocardiographic abnormalities and disease severity in Fabry's disease. (1986) (106)
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease (2016) (106)
METACHROMATIC LEUKODYSTROPHY WITHOUT ARYLSULFATASE A DEFICIENCY (1979) (106)
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. (2006) (106)
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing. (2009) (105)
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III (2003) (104)
Mannosidosis: Clinical, Morphologic, Immunologic, and Biochemical Studies (1976) (103)
Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy (2018) (102)
Enzyme replacement therapy for Fabry disease: lessons from two α-galactosidase A orphan products and one FDA approval (2004) (102)
Combined transgenic expression of alpha-galactosidase and alpha1,2-fucosyltransferase leads to optimal reduction in the major xenoepitope Galalpha(1,3)Gal. (1997) (102)
Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia (1981) (100)
Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke (2010) (100)
RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice (2014) (100)
Alpha-L-iduronidase Deficiency in a Cat: A Model of Mucopolysaccharidosis I (1979) (100)
Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification (2015) (99)
Toward enzyme therapy for lysosomal storage diseases. (1976) (99)
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups (2013) (99)
Morbidity and mortality in type B Niemann–Pick disease (2013) (97)
Acute hepatic porphyrias: Recommendations for evaluation and long‐term management (2017) (97)
Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility. (1998) (97)
Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. (2009) (95)
Multi-ethnic Distribution of Clinically Relevant CYP2C Genotypes and Haplotypes (2012) (95)
The New York Pilot Newborn Screening Program for Lysosomal Storage Diseases: Report of the First 65,000 Infants (2018) (94)
Diagnosis of glycosphingolipidoses by urinary-sediment analysis. (1971) (94)
Pulmonary involvement in Fabry disease. (1997) (94)
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. (1992) (93)
Quality assurance in molecular genetic testing laboratories. (1999) (93)
Light- and electron-microscopic histochemistry of Fabry's disease. (1981) (93)
Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene. (1993) (92)
Neuroaxonal Dystrophy Due to Lysosomal α-N-Acetylgalactosaminidase Deficiency (1989) (91)
δ‐Aminolevulinic Acid Dehydratase Isozymes and Lead Toxicity a (1987) (91)
Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. (1999) (91)
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. (1991) (90)
Correction of enzymatic deficiencies by renal transplantation: fabry's disease. (1972) (90)
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome. (2003) (89)
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria. (2001) (89)
Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms. (1981) (88)
Linkage of pycnodysostosis to chromosome 1q21 by homozygosity mapping (1995) (88)
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. (2006) (88)
Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA. (1988) (86)
Enzyme therapy. VI: Comparative in vivo fates and effects on lysosomal integrity of enzyme entrapped in negatively and positively charged liposomes. (1977) (86)
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks (2018) (85)
Fabry disease: 45 novel mutations in the α-galactosidase A gene causing the classical phenotype (2002) (85)
A method for the quantitative determination of neutral glycosphingolipids in urine sediment. (1970) (85)
Twenty Novel Mutations in the α-Galactosidase A Gene Causing Fabry Disease (1999) (85)
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients. (1991) (85)
Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. (2017) (84)
Effect of the delta-aminolevulinate dehydratase polymorphism on the accumulation of lead in bone and blood in lead smelter workers. (1998) (84)
Statement from the National Institutes of Health workshop on population screening for the cystic fibrosis gene. (1990) (84)
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization (2010) (83)
Increasing Tamoxifen Dose in Breast Cancer Patients Based on CYP2D6 Genotypes and Endoxifen Levels: Effect on Active Metabolite Isomers and the Antiestrogenic Activity Score (2011) (82)
Relief of pain of Fabry's disease by diphenylhydantoin (1973) (82)
Characterization of Hex S, the major residual beta hexosaminidase activity in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz disease). (1975) (82)
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. (1998) (81)
Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. (1979) (81)
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias. (2004) (80)
Prenatal genetic carrier testing using triple disease screening. (1997) (78)
Fabry Disease: Twenty Novel α-Galactosidase A Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes (2002) (78)
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. (1998) (77)
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. (2005) (77)
Long‐Read Single Molecule Real‐Time Full Gene Sequencing of Cytochrome P450‐2D6 (2016) (77)
Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995–2017 (2018) (76)
Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. (1973) (75)
Gaucher's disease type 1: assessment of bone involvement by CT and scintigraphy. (1986) (75)
Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease. (1987) (75)
Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site. (1986) (72)
Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation. (2016) (70)
Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4. (1991) (70)
Electrocardiographic and vectorcardiographic abnormalities in Fabry's disease. (1977) (70)
Hexosaminidase A Deficiency (2011) (69)
Fabry disease in childhood. (2004) (69)
Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations (2012) (69)
Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria (2013) (69)
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. (2000) (68)
Delta-aminolevulinic acid dehydratase polymorphism: influence on lead levels and kidney function in humans. (1997) (68)
The acro-osteolysis syndrome: Morphologic and biochemical studies. (1976) (67)
Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease (2015) (67)
Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease (2010) (66)
Chorionic mosaicism: Association with fetal loss but not with adverse perinatal outcome (1992) (66)
Agalsidase-Beta Therapy for Advanced Fabry Disease A Randomized Trial (2006) (65)
Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene. (1996) (65)
Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS) (2015) (65)
Correction of the Biochemical and Functional Deficits in Fabry Mice Following AAV8-mediated Hepatic Expression of α-galactosidase A. (2007) (64)
Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. (1990) (64)
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. (2010) (63)
Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting. (1987) (63)
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C. (1990) (63)
Comparative performance of gene‐based warfarin dosing algorithms in a multiethnic population (2010) (63)
Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene. (1990) (62)
Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. (2001) (62)
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. (1994) (62)
Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype (2001) (61)
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene. (1994) (61)
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. (2004) (61)
Prader‐Willi syndrome and a bisatellited derivative of chromosome 15 (1980) (61)
Assignment of human alpha 1-antitrypsin to chromosome 14 by somatic cell hybrid analysis. (1982) (61)
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. (1992) (61)
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. (2002) (60)
Lead binding to delta-aminolevulinic acid dehydratase (ALAD) in human erythrocytes. (1997) (60)
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations—implications for diagnosis and therapeutic monitoring (2007) (60)
Structure and chromosomal assignment of the human cathepsin K gene. (1997) (60)
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria (2017) (59)
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy (2013) (59)
Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice. (2013) (58)
Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease (1984) (58)
Accelerated skeletal deterioration after splenectomy in Gaucher type 1 disease. (1982) (58)
Synthesis of a fluorescent derivative of glucosyl ceramide for the sensitive determination of glucocerebrosidase activity. (1984) (58)
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. (2016) (57)
Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac, and stroke clinics (2017) (57)
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A. (1985) (57)
Enzyme Replacement Therapy Stabilized White Matter Lesion Progression in Fabry Disease (2014) (56)
Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant (2003) (56)
The M-mode echocardiogram in Fabry's disease. (1980) (55)
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes. (1986) (55)
Comparison of the tartrate-resistant acid phosphatase in Gaucher's disease and leukemic reticuloendotheliosis. (1981) (55)
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. (2006) (54)
Growth restriction in children with type B Niemann-Pick disease. (2003) (54)
Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene. (1991) (54)
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes. (2010) (53)
Purification and properties of uroporphyrinogen III synthase from human erythrocytes. (1987) (53)
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression. (2000) (53)
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles. (1998) (53)
Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness (2011) (53)
The porphyrias: advances in diagnosis and treatment. (2012) (52)
Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients. (1985) (52)
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit. (1999) (52)
The pathology of the feline model of mucopolysaccharidosis I. (1983) (52)
Acute intermittent porphyria: characterization of a novel mutation in the structural gene for porphobilinogen deaminase. Demonstration of noncatalytic enzyme intermediates stabilized by bound substrate. (1985) (52)
Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family. (2000) (51)
Treatment of genetic diseases (1991) (51)
Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease. (2002) (51)
Molecular genetics of congenital erythropoietic porphyria. (1998) (50)
Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes. (2014) (50)
Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs. (1994) (50)
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype. (2002) (50)
Central retinal artery occlusion complicating Fabry's disease. (1978) (50)
Detection of α‐galactosidase a mutations causing fabry disease by denaturing high performance liquid chromatography (2005) (49)
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. (1999) (49)
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy. (1990) (49)
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients. (2010) (49)
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria. (1987) (48)
Evaluation of 22 genetic variants with Crohn's Disease risk in the Ashkenazi Jewish population: a case-control study (2011) (48)
Ocular manifestations of Niemann-Pick disease type B. (2004) (48)
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. (2004) (48)
Type A Niemann‐Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients (1993) (48)
A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF. (2016) (47)
Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. (1991) (47)
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver (2015) (47)
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. (1991) (46)
CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population. (2007) (46)
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats. (1999) (46)
Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. (2017) (46)
Generalized accumulation of neutral glycosphingolipids with GM2 ganglioside accumulation in the brain. Sandhoff's disease (variant of Tay-Sachs disease). (1972) (45)
Cardiac involvement in Sandhoff's disease. Inborn error of glycosphingolipid metabolism. (1974) (45)
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene. (1995) (45)
Multi-ethnic Cytochrome-P450 Copy Number Profiling: Novel Pharmacogenetic Alleles and Mechanism of Copy Number Variation Formation (2012) (45)
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. (2000) (45)
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. (2019) (45)
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease. (1992) (45)
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 leads to 11qter. (1981) (44)
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE (2020) (44)
Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A. (2007) (44)
Mutational mosaicism and genetic counseling in retinoblastoma. (1979) (44)
Human α-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells (1998) (44)
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. (2003) (43)
Fabry Disease (α-Galactosidase A Deficiency): Renal Involvement and Enzyme Replacement Therapy (2001) (43)
I-Cell disease (Mucolipidosis II) (1975) (43)
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity. (1992) (43)
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients. (1997) (42)
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders (2003) (42)
Genetic heterogeneity in acute intermittent porphyria: characterisation and frequency of porphobilinogen deaminase mutations in Finland. (1985) (42)
Assay of enzymes of lipid metabolism with colored and fluorescent derivatives of natural lipids. (1981) (42)
Prenatal diagnosis of Fabry disease (2007) (42)
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation. (1999) (41)
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype. (2001) (41)
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease. (2005) (41)
Enzyme Therapy. V. In Vivo Fate of Erythrocyte-entrapped β-Glucuronidase in β-Glucuronidase-deficient mice (1975) (41)
Genomic structure, chromosomal localization, and expression of human cathepsin W. (1998) (41)
AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function. (2010) (41)
Fabry Disease: Fourteen α-Galactosidase A Mutations in Unrelated Families from the United Kingdom and Other European Countries (1996) (41)
Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants (1985) (41)
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene (2002) (40)
Congenital Erythropoietic Porphyria Successfully Treated by Allogeneic Bone Marrow Transplantation (1998) (40)
Assignment of the gene for acid beta-glucosidase to human chromosome 1. (1981) (40)
Cystic fibrosis population carrier screening: Here at last—Are we ready? (2001) (40)
Mucopolysaccharidosis in a domestic short-haired cat--a disease distinct from that seen in the Siamese cat. (1979) (39)
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients (1992) (39)
Molecular basis of congenital erythropoietic porphyria: Mutations in the human uroporphyrinogen III synthase gene (1996) (39)
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites. (1987) (39)
Malignant fibrous histiocytoma: Inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21–22—evidence for a common genetic defect (2000) (38)
MANNOSIDOSIS: PATHOLOGY OF THE NERVOUS SYSTEM (1977) (38)
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. (1995) (38)
Fabry Disease:: Renal Sonographic and Magnetic Resonance Imaging Findings in Affected Males and Carrier Females With the Classic and Cardiac Variant Phenotypes (2004) (38)
Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease. (2002) (38)
Enzyme replacement therapy for Fabry disease, an inherited nephropathy. (2002) (38)
Enzyme therapy. II. Purified human alpha-galactosidase A. Stabilization to heat and protease degradation by complexing with antibody and by chemical modification. (1974) (37)
Regulation of rat hepatic 3beta-hydroxysterol delta7-reductase: substrate specificity, competitive and non-competitive inhibition, and phosphorylation/dephosphorylation. (1998) (37)
Dexamethasone-Mediated Up-Regulation of the Mannose Receptor Improves the Delivery of Recombinant Glucocerebrosidase to Gaucher Macrophages (2004) (37)
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. (2013) (37)
Fabry disease: an unusual cause of severe coronary disease in a young man. (1992) (37)
Human lysosomal beta-glucosidase: kinetic characterization of the catalytic, aglycon, and hydrophobic binding sites. (1984) (37)
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population. (2002) (37)
Uroporphyrinogen III Synthase (2000) (36)
Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT. (1986) (36)
Molecular Expression and Characterization of Erythroid-Specific 5-Aminolevulinate Synthase Gain-of-Function Mutations Causing X-Linked Protoporphyria (2013) (35)
Sandhoff’s Disease: Ultrastructural and Biochemical Studies (1972) (35)
In utero diagnosis of Sandhoff's disease. (1973) (35)
Angiokeratoma Corporis Diffusum With Glycopeptiduria due to Deficient Lysosomal a-N-Acetylgalactosaminidase Activity: Clinical, Morphologic, and Biochemical Studies (1993) (35)
Gaucher type I (Ashkenazi) disease: a new method for heterozygote detection using a novel fluorescent natural substrate. (1982) (34)
The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease. (1989) (34)
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen. (2011) (34)
delta-Aminolevulinic acid dehydratase isozymes and lead toxicity. (1987) (34)
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG). (1999) (33)
Animal model of human disease: Mucopolysaccharidosis VI Maroteaux-Lamy syndrome, Arylsulfatase B-deficient mucopolysaccharidosis in the Siamese cat. (1981) (33)
Molecular characterization of phenylketonuria in South Brazil. (2003) (33)
Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3 (2013) (32)
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation. (1995) (32)
Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry. (2010) (32)
Mucopolysaccharidosis type VII (Sly syndrome). Beta-glucuronidase-deficient mucopolysaccharidosis in the dog. (1991) (31)
Parkinson's disease prevalence in Fabry disease: A survey study (2017) (31)
α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease. (2015) (31)
Enzyme replacement and beyond (2001) (31)
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann–Pick disease (1992) (31)
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases the nomenclature used for neutral glycolipids follows the IUPAC-IUB recommendation (1). DOI 10.1194/jlr.M100423-JLR200 (2002) (31)
Premarital and prenatal screening for cystic fibrosis: Experience in the Ashkenazi Jewish population (2004) (31)
First-trimester prenatal diagnosis of Tay-Sachs disease. (1984) (30)
Silicon nephropathy mimicking Fabry's disease. (1983) (30)
Diversity of cystic fibrosis mutation-screening practices. (1998) (30)
Myoclonus from selective dentate nucleus degeneration in type 3 Gaucher disease. (2000) (30)
Gaucher disease: expression and characterization of mild and severe acid β-glucosidase mutations in Portuguese type 1 patients (2000) (30)
Acute Intermittent Porphyria in children: A case report and review of the literature. (2016) (30)
Fabry disease: molecular genetics of the inherited nephropathy. (1989) (29)
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity. (1992) (29)
Successful pregnancy in severe methylmalonic acidaemia (1999) (29)
Congenital erythropoietic porphyria: Recent advances. (2019) (28)
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. (1992) (28)
Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites. (1988) (28)
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification (2011) (28)
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients. (2006) (28)
Tartrate‐resistant acid phosphatase staining of monocytes in gaucher disease (1985) (28)
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. (1998) (28)
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter (2005) (28)
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22. (1999) (27)
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. (1990) (27)
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1. (1997) (27)
Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. (2017) (27)
Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature (1984) (27)
Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells. (1992) (27)
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions. (2006) (26)
Erythropoietic Protoporphyria, Autosomal Recessive (2014) (26)
Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2→q26.3 (2005) (26)
Fabry disease: molecular diagnosis of hemizygotes and heterozygotes. (1987) (26)
Molecular basis of acute intermittent porphyria: Mutations and polymorphisms in the human hydroxymethylbilane synthase gene (1994) (26)
Kümmell disease: delayed collapse of the traumatised spine in a patient with Gaucher type 1 disease. (1984) (26)
Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization. (1997) (26)
Partial correction of the α‐galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors (2004) (26)
Acute Intermittent Porphyria : Characterization of a Novel Mutation in the Structural Gene for Porphobilinogen Deaminase (25)
Fabry disease: clinical features and recent advances in enzyme replacement therapy. (2001) (25)
Confirmation of the regional localization of the genes for human acid alpha‐glucosidase (GAA) and adenosine deaminase (ADA) by somatic cell hybridization (1984) (25)
Neuroaxonal dystrophy in infantile α-N-acetylgalactosaminidase deficiency (1995) (25)
Fabry disease: Diagnosis by α-galactosidase activities in tears (1975) (24)
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP (2018) (24)
Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction. (1995) (24)
Fabry Disease (α-Galactosidase A Deficiency) (2013) (24)
Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1. (1992) (24)
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. (2010) (23)
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release (2020) (23)
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. (1994) (23)
X‐chromosomal inactivation directly influences the phenotypic manifestation of X‐linked protoporphyria (2016) (23)
Cystic fibrosis carrier screening: Issues in implementation (2002) (23)
Fabry disease: Detection of gene rearrangements in the human α‐Galactosidase A Gene by Multiplex PCR Amplification (1993) (23)
Gaucher disease: a century of delineation and understanding. (1982) (23)
Fabry Disease: Percutaneous Transluminal Septal Myocardial Ablation Markedly Improved Symptomatic Left Ventricular Hypertrophy and Outflow Tract Obstruction in a Classically Affected Male (2005) (23)
Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7. (1995) (22)
Identification and Expression of Mutations in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria (AIP) (1999) (22)
Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families (2005) (22)
Human uroporphyrinogen III synthase: NMR‐based mapping of the active site (2008) (22)
Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy (1996) (22)
Purification and properties of feline and human arylsulfatase B isozymes. Evidence for feline homodimeric and human monomeric structures. (1982) (22)
First‐trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study (1992) (22)
Argininosuccinic aciduria: prenatal studies in a family at risk. (1979) (22)
Nucleotide sequence of the human alpha-galactosidase A gene. (1989) (22)
Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. (2001) (22)
Cholesteryl ester storage disease: pathologic changes in an affected fetus. (1987) (21)
Heme biosynthesis and the porphyrias (2007) (21)
A new continuous, monodimensional electrophoretic system for the separation and quantitation of individual glycosaminoglycans. (1981) (21)
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells. (1998) (21)
Gene therapy for genetic diseases (1998) (21)
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A. (1992) (21)
Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII. (1989) (20)
Advances in the treatment of inherited metabolic diseases. (1981) (20)
The IBD1 locus for susceptibility to Crohn's disease has a greater impact in Ashkenazi Jews with early onset disease (2001) (20)
Human alpha-L-iduronidase. I. Purification and properties of the high uptake (higher molecular weight) and the low uptake (processed) forms. (1984) (20)
Pitfalls in Erythrocyte Protoporphyrin Measurement for Diagnosis and Monitoring of Protoporphyrias. (2015) (20)
Human δ-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization (1987) (20)
An allele-specific PCR system for rapid detection and discrimination of the CYP2C19∗4A, ∗4B, and ∗17 alleles: implications for clopidogrel response testing. (2013) (19)
Human α-Galactosidase: Characterization and Eukaryotic Expression of the Full-Length cDNA and Structural Organization of the Gene (1988) (19)
MOLECULAR PRENATAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASE TYPE Ia (1996) (19)
Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease. (1993) (19)
Feline Congenital Erythropoietic Porphyria: Two Homozygous UROS Missense Mutations Cause the Enzyme Deficiency and Porphyrin Accumulation (2010) (19)
Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin. (1992) (19)
Cystic fibrosis carrier screening: Validation of a novel method using BeadChip technology (2004) (19)
Further observations on the role of the adenyl cyclase-cyclic AMP (CAMP) system in human lipolysis. (1971) (18)
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R (2011) (18)
Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes (2017) (18)
Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase. (1985) (18)
Enzyme therapy IV: A method for determining the In Vivo fate of bovine β-glucuronidase in β-glucuronidase deficient mice (1974) (18)
Toxic keratopathy associated with suramin therapy. (1986) (18)
Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium (2020) (18)
Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU. (2012) (18)
Ultrastructure of the eye in fetal type II glycogenosis (Pompe's disease). (1982) (18)
Two brothers with mild congenital erythropoietic porphyria due to a novel genotype. (2005) (18)
Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose. (1986) (18)
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency. (1989) (18)
Fabry disease: correction of the enzymatic deficiency by renal transplantation. (1973) (18)
Frequency of reactivation and variability in expression of X-linked enzyme loci. (1984) (18)
Tay-Sachs disease: from clinical description to molecular defect. (2001) (18)
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities. (1988) (18)
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts. (2010) (17)
Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy. (2001) (17)
Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases. (2001) (17)
Institutional profile: translational pharmacogenomics at the Icahn School of Medicine at Mount Sinai. (2017) (17)
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. (1999) (17)
Long-term Outcomes of Kidney Transplantation in Fabry Disease (2018) (17)
Factors for improved genetic counseling for retinoblastoma based on a survey of 55 families. (1979) (17)
Genetics of GNE myopathy in the non-Jewish Persian population (2015) (16)
Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy. (2006) (16)
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography. (2005) (16)
Identification of a novel point mutation (S65T) in α‐galactosidase A gene in Chinese patients with Fabry disease (1998) (16)
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy (2017) (16)
Regional assignment of the structural gene for human acid β-glucosidase to q42→qter on chromosome 1 (1982) (16)
Chromosomal localization of the gene for Gaucher disease. (1982) (16)
Ocular pathology of Fabry's disease in a hemizygous male following renal transplantation. (1982) (16)
Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19. (1997) (16)
Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes (1996) (16)
Disease expression in cultured pigment epithelium. Feline mucopolysaccharidosis VI. (1985) (16)
Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21----4qter). (1984) (16)
CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda (2011) (15)
Rapid loss of delta-aminolevulinic acid dehydratase activity in primary cultures of adult rat hepatocytes: a new model of zinc deficiency. (1982) (15)
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. (2010) (15)
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias (2019) (15)
Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging (2015) (15)
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening (2016) (15)
AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction (2020) (15)
The glycosphingolipids and glycosyl hydrolases of human blood platelets. (1972) (15)
Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin. (2011) (15)
Future perspectives for Tay-Sachs disease. (2001) (15)
Punctate lenticular opacities in type II mannosidosis. (1978) (15)
A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment (2019) (14)
Comparative physical, kinetic and immunologic properties of the acidic and neutral alpha-D-mannosidase isozymes from human liver. (1980) (14)
Purification and properties of human hepatic aspartylglucosaminidase. (1983) (14)
Hexosaminidase a activity and amyotrophic lateral sclerosis (1988) (14)
An improved method for heterozygote identification in feline and human mucopolysaccharidosis VI, arylsulfatase-B deficiency. (1981) (14)
Fetal tissue amino acid concentrations in argininosuccinic aciduria and in "maternal homocystinuria". (1979) (14)
Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth‐retarded male: mos47,XXY/48,XXY, + r(X) (1997) (14)
X-Linked Protoporphyria (2013) (14)
Biochemical properties of the tartrate-resistant acid phosphatase activity in Gaucher disease. (1982) (14)
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families. (2005) (14)
Regional assignment of the structural gene for human alpha-L-iduronidase. (1984) (13)
Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8 (1982) (13)
Enhancement of residual arylsulfatase B activity in feline mucopolysaccharidosis VI by thiol-induced subunit association. (1982) (13)
Prenatal genetic screening in the Ashkenazi Jewish population. (2001) (13)
Enzyme therapy. X. Immune response induced by enzyme- and buffer-loaded liposomes in C3H/HeJ Gus(h) mice. (1979) (13)
Detection of large gene rearrangements in X‐linked genes by dosage analysis: identification of novel α‐galactosidase A (GLA) deletions causing Fabry disease (2011) (13)
Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases. (1997) (13)
An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1). (1991) (13)
Assays of the heme biosynthetic enzymes. Preface. (1982) (12)
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III) (2015) (12)
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. (1995) (12)
Liver-targeted AAV gene therapy vectors produced by a clinical scale manufacturing process result in high, continuous therapeutic levels of enzyme activity and effective substrate reduction in mouse model of Fabry disease (2019) (12)
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants (2019) (12)
Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissues. (1980) (12)
Fluorometric coupled-enzyme assay for delta-aminolevulinate synthase. (1982) (12)
Feline mucopolysaccharidosis VI: purification and characterization of the resident arylsulfatase B activity. (1981) (12)
Microautoradiographic study on the tissue localization of liposome-entrapped or unentrapped 3H-labeled beta-galactosidase injected into rats. (1983) (12)
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. (2019) (12)
Inborn errors of lysosomal catabolism--principles of heterozygote detection. (1979) (12)
Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21. (1997) (12)
Animal models of mucopolysaccharidosis. (1982) (12)
Evaluating the Patient Reported Outcomes Measurement Information System Scales in Acute Intermittent Porphyria (2019) (11)
Human α-galactosidase A: High plasma activity expressed by the -30G→A allele (1997) (11)
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program. (1993) (11)
Human alpha-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells. (1998) (11)
Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management (2020) (11)
Synthesis of 4-methylumbelliferyl glycosides for the detection of α- and β-D-galactopyranosaminidases (1989) (11)
Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements. (1996) (11)
Comparison between avian and human prolyl 4‐hydroxylases: Studies on the holomeric enzymes and their constituent subunits (1992) (11)
Molecular pathology of Fabry's disease. Physical and kinetic properties of alpha-galactosidase A in cultured human endothelial cells. (1978) (11)
A mutation in the 5′ untranslated region of the human α‐galactosidase A gene in high‐activity variants inhibits specific protein binding (1995) (11)
Enzyme transplantation in Fabry's disease. (1972) (11)
Animal model studies of allelism: characterization of arylsulfatase B mutations in homoallelic and heteroallelic (genetic compound) homozygotes with feline mucopolysaccharidosis VI. (1985) (11)
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. (1999) (11)
Evolution of cardiac pathology in classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy‬‬‬‬‬‬‬‬. (2017) (11)
Arylsulfatase B activity in cultured retinal pigment epithelium: regional studies in feline mucopolysaccharidosis VI. (1986) (11)
Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease. (1999) (11)
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance (2015) (10)
Human α-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides (2000) (10)
Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease. (1980) (10)
Molecular cloning of a cDNA for human δ-aminolevulinate dehydratase (1986) (10)
Lysosomal accumulation of phospholipids in mucolipidosis IV cultured fibroblasts. (1988) (10)
Cerebral Glucose Metabolism in Type I α-N-Acetylgalactosaminidase Deficiency: An Infantile Neuroaxonal Dystrophy (1999) (10)
Enzyme therapy. Differential in vivo retention of bovine hepatic, renal, and splenic beta-glucuronidases and evidence for enzyme stabilization by intermolecular exchange. (1977) (10)
Fabry disease: The α-galactosidase A (GLA) c.427G>A (A143T) mutation, effect of the 5′-10C>T polymorphism (2015) (10)
Enzyme therapy in genetic diseases. Preface. (1973) (10)
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion. (2011) (10)
A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14. (1991) (9)
Electrocardiographic and vectorcardiographic observations in Fabry's disease. (1978) (9)
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene (2000) (9)
Tay-sachs disease: An improved, fully-automated method for heterozygote identification by tear β-hexosaminidase assay (1977) (9)
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria (2018) (9)
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide. (1995) (9)
Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus. (1997) (9)
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. (2019) (9)
Renal transplantation in Type II Gaucher disease. (1973) (9)
Assignment of the gene for neutral alpha-glucosidase AB to chromosome 11. (1983) (9)
Fabry disease. A case report. (2005) (9)
Human α-L-Iduronidase (1984) (9)
Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation (2015) (9)
Gaucher disease in the dog. (1982) (8)
Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin. (1997) (8)
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. (2019) (8)
Murine α-N-Acetylgalactosaminidase: Isolation and Expression of a Full-Length cDNA and Genomic Organization: Further Evidence of an α-Galactosidase Gene Family (1998) (8)
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X‐linked protoporphyria (2019) (8)
Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria. (2019) (8)
Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy (2005) (8)
Localization of the Thiamine-Responsive Megaloblastic Anemia Syndrome Locus to a 1.4-cM Region of 1q23 (1999) (8)
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria (2018) (8)
Immunological evaluation of repeated administration of erythrocyte-entrapped protein to C3H/HeJ mice. (1977) (8)
Oculomotor abnormalities in chronic GM2 gangliosidosis. (1982) (8)
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide. (2011) (8)
Letter: Diagnosis of Fabry's disease by tear alpha-galactosidase A. (1974) (8)
Animal analogues of human inherited metabolic diseases: molecular pathology and therapeutic studies. (1982) (8)
Abstracts presented at the 24th Annual Congress of the Belgian Society of Internal Medicine, 13–14 December 2019, Dolce La Hulpe, La Hulpe, Belgium (2019) (8)
Human mannosidosis: in vitro and in vivo studies of cofactor supplementation. (1980) (8)
Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification. (2018) (8)
Feline models of mucopolysaccharidosis. (1980) (8)
The Entire Genomic Sequence and cDNA Expression of Mouse α-Galactosidase A☆ (1996) (8)
Mannosidosis: studies of the alpha-D-mannosidase isozymes in health and disease. (1976) (7)
Erythropoietic protoporphyria: time to prodrome, the warning signal to exit sun exposure without pain—a patient-reported outcome efficacy measure (2021) (7)
Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis (2020) (7)
Recent advances in Fabry's disease. (1970) (7)
Synthesis and Processing of a-Galactosidase A in Human Fibroblasts (1987) (7)
Enzyme therapy. V. In vivo fate of erythrocyte-entrapped beta-glucuronidase in beta-glucuronidase-deficient mice. (1975) (7)
Warfarin pharmacogenetics: A controlled dose–response study in healthy subjects (2013) (7)
The liver in inherited metabolic diseases of childhood. (1972) (7)
CHROMOSOMAL LOCALIZATION OF THE STRUCTURAL GENES ENCODING THE HUMAN LYSOSOMAL HYDROLASES AND THEIR ACTIVATOR AND STABILIZER PROTEINS (1984) (7)
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele (2011) (7)
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. (1998) (7)
Genetic heterogeneity in type I Gaucher disease. (1982) (7)
High Overexpression of the Human α-Galactosidase A Gene Driven by Its Promoter in Transgenic Mice: Implications for the Treatment of Fabry Disease (2002) (7)
Congenital Erythropoietic Porphyria: Characterization of Murine Models of the Severe Common (C73R/C73R) and Later-Onset Genotypes (2011) (7)
The Fabry disease genotype-phenotype database (dbFGP): an international expert consortium (2017) (6)
A fully automated method for identification of Tay-Sachs disease carriers by tear beta-hexosaminidase assay. (1977) (6)
Enzyme therapy XIV. Comparison of methods for enzyme entrapment in human erythrocytes. (1980) (6)
5-Aminolevulinate dehydratase porphyria: Update on hepatic 5-aminolevulinic acid synthase induction and long-term response to hemin. (2020) (6)
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. (2019) (6)
α‐Galactosidase A (2002) (6)
Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders (2019) (6)
Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis? (2006) (6)
Many pitfalls in diagnosis of acute intermittent porphyria: a case report (2018) (6)
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele. (1997) (6)
Chemistry and Metabolism of Glycosphingolipids in Fabry’s Disease (1972) (6)
ENZYME MANIPULATION: EVALUATION OF ORAL ZnSO4 SUP-PLEMENTATION IN MANNOSIDOSIS TYPE II (1977) (6)
Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP. (2019) (6)
Purification and characterization of human alpha-galactosidase isozymes: comparison of tissue and plasma forms and evaluation of purification methods. (1980) (6)
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria (2020) (6)
Identification of two HEXA mutations causing infantile-onset Tay–Sachs disease in the Persian population (2011) (6)
HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populations. (1997) (6)
Association of Professors of Human and Medical Genetics: summary of the third annual workshop. (1998) (6)
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity (2017) (6)
Erythropoietic Protoporphyria: Phase 2 Clinical Trial Results Evaluating the Safety and Effectiveness of Dersimelagon (MT-7117), an Oral MC1R Agonist (2020) (6)
Clinical and experimental transplantation in enzymatic deficiency disease. (1978) (6)
First Trimester Fetal Diagnosis: Principles and Potential Pitfalls in Enzymatic and Molecular Diagnoses (1985) (6)
Use of complementary and alternative medicine by patients with lysosomal storage diseases (2009) (6)
Determination of delta-aminolevulinate dehydratase activity by a specific fluorometric coupled-enzyme assay. (1983) (6)
Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. (1993) (6)
Identification of participants (2004) (5)
Interim Data from a Randomized, Placebo Controlled, Phase 1 Study of Aln-AS1, an Investigational RNAi Therapeutic for the Treatment of Acute Hepatic Porphyria (2016) (5)
Human delta-aminolevulinate dehydratase: chromosomal localization to 9q34 by in situ hybridization. (1987) (5)
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. (2019) (5)
Rapid determination of delta-aminolevulinate synthase activity by a specific fluorometric coupled enzyme assay. (1981) (5)
Prolonged postpartum proteinuria after early preeclampsia. (2004) (5)
Acute intermittent porphyria: vector optimization for gene therapy (2007) (5)
Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection. (2019) (5)
Rapid molecular diagnosis of genetic diseases by high resolution melting analysis: fabry and glycogen storage 1A diseases. (2014) (5)
Gaucher type I (Ashkenazi) disease: considerations for heterozygote detection and prenatal diagnosis. (1982) (5)
Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms. (1984) (5)
Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. (1995) (5)
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda (2016) (5)
Regional assignment of the structural gene for human acid beta-glucosidase to q42 leads to qter on chromosome 1. (1982) (5)
An Analysis of Healthcare Utilization and Costs Associated with Patients with Acute Hepatic Porphyrias (AHPS) with Recurrent Attacks in Explore: A Prospective, Multinational Natural History Study of Patients with AHP (2018) (5)
ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice (2021) (5)
NIACIN DEFICIENCY (1952) (5)
Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. (2013) (5)
Focal Facial Dermal Dysplasias (2016) (4)
Enzyme Entrapment in Erythrocytes and Liposomes for the Treatment of Lysosomal Storage Diseases (1977) (4)
FABRY'S DISEASE (1974) (4)
FRI-442-Acute hepatic porphyria disease manifestations and daily life impacts in EXPLORE international, prospective, natural history study (2019) (4)
Design and validation of an open-source modular Microplate Photoirradiation System for high-throughput photobiology experiments (2018) (4)
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. (2019) (4)
Fabry's disease (ceramide trihexosidase deficiency): diagnostic confirmation by analysis of dental pulp. (1972) (4)
Pharmacologic Chaperone Therapy for Lysosomal Diseases (2006) (4)
The IBD1 locus for susceptibility to Crohn’s disease has a greater impact in Ashkenazi Jews with early onset disease (2001) (4)
INFANTILE NEUROAXONAL DYSTROPHY (INAD) ASSOCIATED WITH A LYSOSOMAL ENZYME DEFICIENCY: 145 (1989) (4)
Studies on human acid beta-glucosidase and the nature of the molecular defect in type 1 Ashkenazi Gaucher disease. (1982) (4)
Prenatal diagnosis of inherited metabolic diseases; principles, pitfalls, and prospects. (1982) (4)
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency. (1995) (4)
A phase 1/2, randomized, placebo controlled and open label extension studies of Givosiran and investigational RNA interference therapeutic, in patients with acute intermittent porphyria (2018) (3)
Fabry disease: diagnosis by alpha-galactosidase activities in tears. (1975) (3)
Gaucher disease (1882-1982): centennial perspectives on the most prevalent Jewish genetic disease. (1982) (3)
Chapter 38 – Fabry Disease: α-Galactosidase A Deficiency (2015) (3)
Diagnosis of inherited enzymatic deficiencies with tears: Fabry disease. (1976) (3)
Arylsulfatase A pseudodeficiency: altered kinetic and heat-inactivation properties. (1997) (3)
Urinary screening of globoid-cell leukodystrophy. (1971) (3)
Abbreviated PR interval in mannosidosis. (1978) (3)
Enzyme replacement in genetic disease. Prospectus. (1973) (3)
Enzyme therapy in Fabry's disease by renal transplantation. (1972) (3)
Phased Haplotype Resolution of the SLC6A4 Promoter Using Long-Read Single Molecule Real-Time (SMRT) Sequencing (2020) (3)
548 Peanut allergy in Twin (2000) (3)
Crystallization and preliminary X-ray analysis of human alpha-galactosidase A complex. (1994) (3)
Determination of Sphingomyelinase Activity in Cells and Body Fluids Using a New Fluorescent Derivative Of Sphingomyelin: Application to Diagnosis of Niemann-Pick Disease (1988) (3)
Long-read single-molecule real-time ( SMRT ) full gene sequencing of cytochrome P 450-2 D 6 ( CYP 2 D 6 ) (2018) (3)
Gaucher disease, a century of delineation and research : proceedings of the First International Symposium on Gaucher Disease, held in New York City, July 22-24, 1981 (1982) (3)
Tay–Sachs Disease (2013) (3)
Setleis syndrome: genetic and clinical findings in a new case with epilepsy. (2014) (3)
Acute Hepatic Porphyrias: "Purple Flags"-Clinical Features that should Prompt Specific Diagnostic Testing. (2021) (3)
The Human Genetic Mutant Cell Repository (1973) (3)
Regional assignment of the structural gene for human a-L-iduronidase ( gene mapping / somatic cell hybridization / gene dosage / mucopolysaccnaridoses / ysosomaI (3)
Lysosomal beta-glucosidase of rat liver. (1984) (3)
ABCB6 polymorphisms are not overly represented in patients with porphyria (2021) (3)
Schindler Disease: Deficient- N-Acetylgalactosaminidase Activity (2015) (3)
Enzyme therapy XI: immunologic considerations for replacement therapy with unentrapped, erythrocyte- and liposome-entrapped enzymes. (1978) (3)
Erratum to: A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations (2012) (3)
Therapies for Lysosomal Storage Diseases (2013) (3)
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients (2018) (3)
Lysosomal acid lipase deficiency and hematologic cancer predisposition (2020) (3)
Comparison of enzymatic activity with evidence of engraftment in patients with inborn errors of metabolism receiving allogeneic marrow transplantation. (1986) (3)
Targeted sequencing of over 4000 hypertrophic cardiomyopathy (HCM) patients for mutations causing HCM and Fabry disease: HCM mutations frequent in patients with GLA later-onset mutations, polymorphisms, and variants (2014) (3)
ARGININOSUCCINIC ACIDURIA: PRENATAL DIAGNOSIS AND STUDIES OF AN AFFECTED FETUS (1977) (3)
EXPLORE: A prospective, multinational natural history study of acute hepatic porphyria patients with recurrent attacks (2016) (2)
Congenital Erythropoietic Porphyria (2016) (2)
Pretreatment marrow cytogenetic status: a predictor of response to remission induction therapy in acute myelogenous leukemia. (1983) (2)
Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop. (2000) (2)
Gaucher disease: a membranous enzymopathy. (1982) (2)
ar-Galactosidase A Gene Rearrangements Causing Fabry Disease (2001) (2)
Trends in healthcare utilization in the United States and Europe associated with patient with acute hepatic porphyria with recurrent attacks in EXPLORE: A prospective, multinational natural history study of patients with acute hepatic porphyria (2018) (2)
Treatment of Fabry's disease: correction of the enzymatic deficiency by renal transplantation. (1971) (2)
Tay-Sachs disease prevention in Minnesota. Role of physician advocacy in carrier screening. (1986) (2)
Inborn Error of Glycosphingolipid Metabolism (1974) (2)
Fabry’s Disease—Angiokeratoma Corporis Diffusum Universale (1976) (2)
Genomics and personalized medicine: a perspective. (2009) (2)
Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. (1972) (2)
Immunologic aspects of enzyme replacement therapy. An evaluation of the immune response to unentrapped, erythrocyte- and liposome-entrapped enzyme in C3H/HeJ Gush mice. (1980) (2)
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. (2019) (2)
Neural gene therapy for inherited diseases with mental retardation: Principles and prospects (1995) (2)
Liver-based expression of the human alpha-galactosidase A gene (GLA) in a murine Fabry model results in continuous supra-physiological enzyme activity and effective substrate reduction (2017) (2)
Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes (1998) (2)
AB050. Later onset Fabry disease, cardiac damage progress in silence-experience with a highly prevalent mutation (2017) (2)
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. (2017) (2)
Molecular cloning of a cDNA for human delta-aminolevulinate dehydratase. (1986) (2)
Glycolipid analysis of urine sediment in Fabry's and Gaucher's diseases (1968) (2)
Newborn screening for Fabry disease: Is the A143T allele a pathogenic mutation or a pseudodeficiency allele? (2015) (2)
Correction to: Porphyric Neuropathy: Pathophysiology, Diagnosis, and Updated Management (2020) (2)
Regional gene assignment of human porphobilinogen deaminase and esterase A4 to chromosome 11q23 -* llqter (gene mapping/somatic celi hybrids/Friend erythroleukemia cells/X chromosome-autosome translocation/acute intermittent porphyria) (2)
Porphobilinogen synthase: a specific and sensitive coupled-enzyme assay. (1986) (2)
JCL Roundtable: enzyme replacement therapy for lipid storage disorders. (2014) (2)
Risk factors associated with transcervical CVS losses (1992) (2)
ZFN-mediated in vivo genome editing results in therapeutic levels of α-galactosidase A and effective substrate reduction in Fabry knockout mice (2018) (2)
Enzyme therapy in genetic diseases: 2 : symposium held March 4-7, 1979, at Hilton Head Island, South Carolina (1980) (2)
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations (2019) (2)
Acute myelogenous leukaemia in Hurler's syndrome. (1978) (2)
Prenatal Genetic Screening in the Ashkenazi Jewish Population: A Pilot Program of Multiple Option Testing for Five Disorders † 712 (1998) (2)
Hexosaminidase a activity in skin fibroblasts from various types of GM2 gangliosidosis using a fluorogenic sulphated substrate (1985) (2)
The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A. (1996) (2)
571 FAILURE OF FIBROBLAST ALLOGRAFT FOR ENZYME REPLACEMENT IN MUCOPOLYSACCHARIDOSIS, TYPE VI (1978) (2)
Synthesis of 4-Methylumbelliferyl Glycosides for the Detection of α- and β-D-Galactopyranosaminidases. (1990) (1)
UNEXPECTED IDENTIFICATION OF FABRY DISEASE AMONG PATIENTS WITH THE CLINICAL DIAGNOSIS OF HYPERTROPHIC CARDIOMYOPATHY IN ICELAND (2014) (1)
Fabry disease: α-galactosidase A deficiency (2020) (1)
The New York pilot newborn screen for lysosomal diseases: 40 month data (2017) (1)
FEASIBILITY OF ROUTINE CYP2C19 GENOTYPING AND PLATELET FUNCTION TESTING IN PATIENTS UNDERGOING ELECTIVE CORONARY STENTING IN A HIGH-VOLUME CARDIAC CATHETERIZATION LAB (2012) (1)
Genetic Heterogeneity of Gaucher Disease: Enzymatic and Immunologic Studies (1986) (1)
Mouse uroporphyrinogen decarboxylase: CDNA cloning, expression, and mapping (1996) (1)
RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34. (1991) (1)
Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells † (2021) (1)
Liver-based expression of the human alpha-galactosidase A gene in a murine Fabry model results in continuous therapeutic levels of enzyme activity and effective substrate reduction (2018) (1)
Assignment of the feline α-l-iduronidase gene to chromosome D4 (1989) (1)
Gene symbol: HMBS. Disease: Acute intermittent porphyria. (2004) (1)
Heme Biosynthesis and the Porphyrias in Children (2021) (1)
Porphyria Cutanea Tarda: Profile of 189 Patients from the Porphyrias Consortium in the United States (2017) (1)
Heteroallelisms for acid β-glucosidase mutations L444P and E326K results in severe neonatal Gaucher disease. • 620 (1997) (1)
Rsal polymorphism in the human §-aminolevulinate dehydratase gene at 9q34 (1991) (1)
A novel, selective and orally-available glucosylceramide synthase inhibitor for substrate reduction therapy of Fabry disease (2013) (1)
853. Efficacy of AAV-Mediated Expression of Acid Sphingomyelinase at Correcting the Visceral and Pulmonary Manifestations of Niemann-Pick B Disease (2004) (1)
Human Acid β-Glucosidase: Primary Structure of the Active Site (1986) (1)
α-N-Acetylgalactosaminidase (2002) (1)
Personalized dosing of tamoxifen (Tam) based on polymorphisms of CYP2D6 (2D6) and/or low serum endoxyfen levels. (2010) (1)
Enzyme therapy IV. A method for determining the in vivo fate of bovine beta-glucuronidase in beta-glucuronidase deficient mice. (1974) (1)
δ-Aminolevulinate dehydratase: Induced expression and regional assignment of the human gene to chromosome 9q13»qter (2004) (1)
Tay-Sachs disease: prospects for therapeutic intervention. (1977) (1)
Recent Advances in Enzyme Replacement Therapy for Lysosomal Diseases (2005) (1)
Clinical benefits of early treatment with Fabrazyme in Fabry disease (2007) (1)
FABRY DISEASES: A GENE BY MULTIPLEX PCR AMPLIFICATION (1993) (1)
Enzyme Replacement Therapy For Lysosomal Diseases : Principles For Effective Treatment (2006) (1)
Chapter 99 – Inherited Porphyrias (2013) (1)
Table 2. [Molecular Genetic Testing Used in Carrier Detection for Hexosaminidase A Deficiency]. (2011) (1)
Tay-Sachs disease: an improved, fully-automated method for heterozygote identification by tear beta-hexosaminidase assay. (1977) (1)
768 ENZYME MANIPULATION: ENHANCEMENT OF THE RESIDUAL ARYLSULFATASE B (rASB) ACTIVITY IN FELINE (f) MUCO-POLYSACCHARIDOSIS (MPS) VI BY DTT (1981) (1)
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G (1999) (1)
Human alpha-N-acetylgalactosaminidase: site occupancy and structure of N-linked oligosaccharides. (2000) (1)
First announcement of the Fanconi Anemia International Registry (1982) (1)
Linkage Disequilibrium Analysis of the Gaucher Disease N370S Mutation (1999) (1)
Acid Sphingomyelinase-Deficient Niemann–Pick Disease (2007) (1)
In vivo recognition of murine tissue and serum proteins (1975) (1)
Response to "Letter to the Editor by Drs Block and Razani". (2016) (1)
Rapidly progressive hepatosteatosis and liver failure five years after liver transplantation in a patient with lysosomal acid lipase deficiency (2017) (0)
NEUROPATHOLOGY OF MANNOSIDOSIS: 87 (1976) (0)
A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution (2023) (0)
Enzyme therapy—IX. stabilization of human splenic α-galactosidase a by zinc ion (1978) (0)
Monitoring of Gaucher disease type 1 in presymptomatic pediatric patients (2014) (0)
Evolution of cardiac pathology in type 1 classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy (2016) (0)
Reply (2018) (0)
P023: The clinical utility of plasma Lyso-Gb3 in the diagnosis of Fabry disease in infants and adults (2023) (0)
Fabry Disease: Phenotypic Spectrum and the Importance of Early Diagnosis and Treatment (2008) (0)
Mucopolysaccharidosis VI: Purification and Characterization of the Residual Arylsulfatase B Activity (2006) (0)
Essential considerations for evaluating therapeutic effectiveness in Fabry disease (2014) (0)
Human aminolevulinate synthase structure reveals a eukaryotic-specific autoinhibitory loop regulating substrate binding and product release (2020) (0)
Will new therapy for genetic disease alter underwriting practices? (1993) (0)
Type B Niemann-Pick Disease: FindingsatChestRadiography,Thin- SectionCT,andPulmonaryFunction (2006) (0)
Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease (2014) (0)
Glucosylceramide Synthase Inhibition Reduces Gb3 and Lyso-Gb3 in a Mouse Model Of Fabry Disease (2012) (0)
11:46 AM: Hearing Loss in Fabry's Disease: A Genotype-Phenotype Correlation (2003) (0)
249. Minimal Dose of AAV8/DC190-ASM Necessary for Therapeutic Efficacy in a Mouse Model of Niemann-Pick Disease (2005) (0)
A process for the production of secreted proteins (1993) (0)
Deficiency of α-N-acetylgalactosaminidase activity in a family of a novel angiokeratoma cororis diffusum (1990) (0)
A process for producing secreted proteins (1993) (0)
P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels (2023) (0)
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias (2019) (0)
A 10-year study documenting the long-term effectiveness of agalsidase-beta treatment in 52 adult patients with classic Fabry disease (2015) (0)
and In Vitro Enhancement of the Residual a-L-lduronidase Activities (1988) (0)
New findings in angiokeratoma corporis diffusum (1991) (0)
The Pathology of theFeline Model of Mucopolysaccharidosis I (1983) (0)
Fabry Disease in Families With Hypertrophic Cardiomyopathy (2017) (0)
Variability in Erythrocyte and Plasma Porphyrin Levels in Erythropoietic Protoporphyria and X-Linked Protoporphyria: 520 (2014) (0)
Fabry Disease: Novel a -Galactosidase A 3 (cid:1) -Terminal Mutations Result in Multiple Transcripts Due to Aberrant 3 (cid:1) -End Formation (2003) (0)
Recent Advances in Inborn Errors of Metabolism: 4th International Congress of Inborn Errors of Metabolism, Sendai, May 1987: Proceedings (1988) (0)
Cloning and expression of alpha-galactosidase to biologically active. (1993) (0)
Lipoprotein metabolism in cholesteryl ester storage disease evidence that apolipoprotein b production is regulated by endogenous cholesterol synthesis (1985) (0)
List of contributors. (2019) (0)
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria (2019) (0)
Table 1. [Summary of Molecular Genetic Testing Used in Hexosaminidase A Deficiency]. (2011) (0)
Purification and Properties of Human Hepatic (2001) (0)
Table 1. [Biochemical Characteristics of Erythropoietic Protoporphyria (EPP)]. (2014) (0)
Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria (2020) (0)
Liver Disease in Children: Heme biosynthesis and the porphyrias (2014) (0)
Enzyme therapy--IX. Stabilization of human splenic alpha-galactosidase a by zinc ion. (1978) (0)
Books Received (1983) (0)
Niemann-Pick disease: A frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients (lysosomal hydrolase/sphingomyelin/lysosomal storage disease/polymerase chain reaction/heterozygote detection) (2016) (0)
Pain in acute hepatic porphyrias: Updates on pathophysiology and management (2022) (0)
Table 3. [Biochemical Characteristics of Autosomal Recessive Erythropoietic Protoporphyria (EPP)]. (2013) (0)
PYCNODYSOSTOSIS: MAPPING AND EVALUATION OF THREE CANDIDATE GENES.† 854 (1996) (0)
QUANTITATIVE PHARMACOGENOMICS OF THE ANTICOAGULANT RESPONSE TO WARFARIN IN HEALTHY SUBJECTS (2011) (0)
P013: Congenital erythropoietic porphyria: Variable age of onset of porphyrinuria, an indicator of disease severity and correlation with genotype (2023) (0)
Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study (2023) (0)
Direct-to-Consumer Recruitment Methods for Clinical Trials for Rare Diseases: A Novel Approach for Testing the Application of Targeted Social Media Messaging to Aid in Accrual Into Research Studies (Preprint) (2022) (0)
The Demographics and Distribution of Mutations Associated with Acid Sphingomyelinase-Deficient (Types A & B) Niemann-Pick Disease (2012) (0)
SP017MALE FABRY PATIENTS TREATED WITH ENZYME REPLACEMENT THERAPY: RENAL PROGRESSION RATES REFLECT AVERAGED URINE PROTEIN TO CREATININE RATIOS (2015) (0)
Table 3. [Selected HEXA Allelic Variants]. (2011) (0)
The Fabry genotype-phenotype database: an international expert consortium (2014) (0)
Structural organization of the human a-galactosidase A gene: Further evidence for the absence of a 3' untranslated region (Fabry disease/intron-exon Junctions/full-length cDNA/promoter/lysosomal hydrolase) (2016) (0)
Cool Tools III: New Technologies for Molecular Diagnostics (2003) (0)
Erratum (1981) (0)
Animal models of inherited metabolic diseases. Proceedings of the International Symposium held in Bethesda, Maryland, October 19-20 1981. (1982) (0)
A pilot study of oral iron therapy in erythropoietic protoporphyria and X-linked protoporphyria (2022) (0)
Assignment of the feline alpha-L-iduronidase gene to chromosome D4. (1989) (0)
Contents Vol. 38, 2014 (2015) (0)
Animal models of inherited metabolic diseases. Proceedings of the International Symposium on Animal Models of Inherited Metabolic Disease. Bethesda, Maryland. October 19-20, 1981. (1982) (0)
Acid sphingomyelinase deficient Niemann-Pick disease New mutations and genotype/phenotype correlations (2003) (0)
Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family. (1998) (0)
[Partial deletion of alpha-galactosidase A gene in a Japanese mutant of Fabry disease]. (1990) (0)
Dual therapy with migalastat and agalsidase-beta in a patient with Fabry disease with progressing hypertrophic cardiomyopathy (2021) (0)
Recent advances in inborn errors of metabolism. Proceedings of the Fourth International Congress of Inborn Errors of Metabolism. Sendai, Japan, 26-30, 1987. (1987) (0)
Enzyme therapy for inborn errors of metabolism. (1973) (0)
Pycnodysostosis: Expression and Biochemical Characterization of Missense Mutations in the Cathepsin K Gene • 718 (1998) (0)
Linkage Disequilibrium Analysis in a Recently Founded Population : Evaluation of the Variegate Porphyria Founder in South African Afrikaners (2007) (0)
Table 3. [Disorders to Consider in the Differential Diagnosis of Congenital Erythropoietic Porphyria]. (2016) (0)
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients (2017) (0)
Impact of acute hepatic porphyrias on quality of life and work loss: An analysis of EXPLORE natural history study (2018) (0)
Table 2. [Summary of Molecular Genetic Testing Used in Congenital Erythropoietic Porphyria (CEP)]. (2016) (0)
Niemann-Pick A & B Disease:Clinical Spectrum and Preclinical Therapeutic Studies (2008) (0)
Fabry disease: Effective tissue substrate depletion following enzyme replacement in α-galactosidase A deficient mice. • 607 (1997) (0)
Along the “deDuve-ian” trail: Research with colleagues & fellows on the path toward LSD delineation and treatment (2013) (0)
An exonic point mutation was elucidated in novel angiokeratoma corporis diffusum (1990) (0)
List of Contributors (2021) (0)
Mucolipidoses II and III: Heterozygote detection by quantitation of N-acetyl-β-D-glucosaminidase isozymes (1977) (0)
A mutation in arylsulfatase B gene causes mucopolysuccharidosis VI in rats (1994) (0)
Delivery of Compacted DNA Across the Blood-Brain Barrier ♦ 732 (1998) (0)
Infantile neuroaxonal dystrophy due to deficient α-N-acetylgalactosaminidase activity (1995) (0)
Identification and Characterization of Feline Acute Intermittent Porphyria: The First Naturally-Occurring Animal Model. (2009) (0)
Polymorphisms are not Overly Represented in Patients with Porphyria Tracking no : ADV-2021-005484 R 1 (2021) (0)
High Diagnostic Yield and Clinical Utility of Whole Exome Sequencing Using an Automated Variant Prioriti S Ation System, EVIDENCE, for Patients with Suspected Genetic Disorders (2020) (0)
Hearing loss in Fabry’s disease: a genotype-phenotype correlation (2003) (0)
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation (2023) (0)
Pycnodysostosis: Identification, Characterization, and Molecular Modeling of Cathepsin K Mutations • 107 (1997) (0)
Table 4. [UROS Pathogenic Variants Discussed in This GeneReview]. (2016) (0)
Cholesteryl ester storage disease (CESD): An under-recognized and treatable LSD with liver dysfunction/failure and dyslipidemia (2013) (0)
527 DRAMATIC CLINICAL RESPONSE TO COFACTOR THERAPY IN ADVANCED METHYLMALONIC ACIDEMIA (MMA) (1978) (0)
Table 2. [Summary of Molecular Genetic Testing Used in Erythropoietic Protoporphyria]. (2014) (0)
Workshop on inborn errors of metabolism. (1982) (0)
Title The D 519 G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea (2016) (0)
106. Natural history of Fabry disease: Progression of the nephropathy in a large series of affected males and heterozygous females (2008) (0)
711 REGIONAL CHROMOSOMAL ASSIGNMENT OF THE STRUCTURAL GENE FOR HUMAN ACID β-GLUCOSIDASE (1981) (0)
Genotype-Phenotype Correlations in Type B Niemann-Pick Disease • 725 (1998) (0)
Table 4. [Selected FECH Pathogenic Allelic Variants]. (2014) (0)
Neonatal screening for lysosomal disorders in Italy: The initial 17-month experience (2018) (0)
α-galactosidase activity increases after short-term treatment with migalastat in patients with Fabry disease (2018) (0)
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants (2019) (0)
Fabry disease: Incidence of pathogenic GLA mutations estimated by newborn screening studies (2019) (0)
CHAPTER 43 – Fabry disease (2012) (0)
Abstract P4-02-06: Beyond CYP2D6 Genotyping: Personalized Dosing of Tamoxifen (Tam) Based on Low Serum Endoxifen Levels (2010) (0)
Erratum: A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter (Journal of Medical Genetics (2004) 42 (408-415)) (2005) (0)
KIDNEY BIOPSY TEACHING CASE Prolonged Postpartum Proteinuria After Early Preeclampsia (2004) (0)
2. Enzyme replacement in Fabry's disease (1971) (0)
Printed in the Netherlands Schindler Disease : an Inherited Neuroaxonal Dystrophy due toN-Acetylgalactosaminidase Deficiency (0)
770 REGIONAL ASSIGNMENT OF HUMAN PBG-DEAMINASE (PBGD) AND ESTERASE A4 (ESA4) TO 11q23 11qter (1981) (0)
Fabry Disease: Eighteen Mutations in the α-Galactosidase A Gene Causing the Classic Phenotype. † 599 (1997) (0)
Richard M. Goodman Fellowship: A research fellowship in Jewish genetic diseases (1993) (0)
Animal Model ofHumanDisease Mucopolysaccharidosis TypeVII(Sly Syndrome) (1991) (0)
MYXOMA VIRUS-MEDIATED ONCOLYSIS OF CANINE TUMOR CELLS IS ENHANCED IN THE ABSENCE OF THE VIRAL SERP 2 GENE (2010) (0)
Table 1. [Biochemical Characteristics of Congenital Erythropoietic Porphyria (CEP)]. (2016) (0)
Table 4. [Selected ALAS2 Pathogenic Allelic Variants]. (2013) (0)
Dersimelagon in Erythropoietic Protoporphyrias. (2023) (0)
The influence of the common human ALAD polymorphism on accumulation of lead in bones (1996) (0)
Focal Dermal Dysplasia, Type IV is associated with mutations in CYP26CI (2012) (0)
The chloroquine-induced phenocopy of Fabry disease keratopathy (2021) (0)
Cholesteryl ester storage disease is associated with progressive liver disease and childhood onset cirrhosis in a series of six liver biopsies spanning 22 years (2014) (0)
Brief Communication Frequency ofReactivation andVariability inExpression ofX-Linked EnzymeLoci (1984) (0)
FRI-440-Management of acute hepatic porphyria attacks in europe and united states: EXPLORE international, prospective, natural history study (2019) (0)
Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS) (2015) (0)
The Niemann–Pick diseases (2020) (0)
From Hereditary Cancer Syndrome to Sporadic Cancer Etiology: Genetic Linkage of DMS-MFH to Chromosome 9p21-22 • 724 (1998) (0)
Fabry disease: From dermatologic entity to a treatable multi-organ disease (2010) (0)
Vascular reactivity in mesenteric arteries from a rodent model of acute intermittent porphyria [AIP] (2016) (0)
Table 3. [Biochemical Characteristics of X-Linked Protoporphyria (XLP)]. (2013) (0)
ENZYME THERAPY: IMMUNE RESPONSE TO ERYTHROCYTE- AND LIPOSOME-ENTRAPPED ENZYME IN β-GLUCURONIDASE DEFICIENT MICE (1977) (0)
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants (2018) (0)
Male patients with Fabry disease treated with enzyme replacement therapy: Renal progression rates reflect averaged urine protein to creatinine ratios (2016) (0)
Precision medicine for Fabry disease: Benign and like-benign missense mutations (2018) (0)
520 RAPID PRENATAL DIAGNOSIS OF FABRY'S DISEASE (1978) (0)

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