Raphael Schiffmann
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Computer Science
Raphael Schiffmann's Degrees
- Masters Artificial Intelligence Stanford University
- Bachelors Computer Science University of California, Berkeley
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(Suggest an Edit or Addition)Raphael Schiffmann'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
- Enzyme replacement therapy in Fabry disease: a randomized controlled trial. (2001) (1198)
- Invited Article: An MRI-based approach to the diagnosis of white matter disorders (2009) (446)
- Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (2007) (436)
- Natural History of Fabry Renal Disease: Influence of α-Galactosidase A Activity and Genetic Mutations on Clinical Course (2002) (435)
- Enzyme Therapy in Type 1 Gaucher Disease: Comparative Efficacy of Mannose-Terminated Glucocerebrosidase from Natural and Recombinant Sources (1995) (424)
- Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. (2000) (409)
- Neuropathology provides clues to the pathophysiology of Gaucher disease. (2004) (408)
- Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype–phenotype relationship (2007) (405)
- Lamin B1 duplications cause autosomal dominant leukodystrophy (2006) (389)
- Clinical and molecular phenotype of Aicardi-Goutieres syndrome. (2007) (358)
- Parkinsonism among Gaucher disease carriers (2004) (335)
- Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. (2016) (326)
- Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy (2009) (319)
- Infusion of α-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease (2000) (312)
- Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? (2003) (299)
- Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. (2006) (261)
- Regional Cerebral Hyperperfusion and Nitric Oxide Pathway Dysregulation in Fabry Disease: Reversal by Enzyme Replacement Therapy (2001) (252)
- Childhood ataxia with diffuse central nervous system hypomyelination (1994) (251)
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study (2016) (238)
- Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus (2012) (231)
- Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data (2009) (226)
- Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. (2011) (207)
- Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease (2003) (200)
- Randomized, controlled trial of miglustat in Gaucher's disease type 3 (2008) (199)
- Pediatric Fabry Disease (2005) (197)
- Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. (2008) (193)
- Profile of endothelial and leukocyte activation in fabry patients (2000) (190)
- GFAP mutations, age at onset, and clinical subtypes in Alexander disease (2011) (189)
- The neurogenetics of mucolipidosis type IV (2002) (173)
- Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. (1998) (168)
- Quantitative analysis of cerebral vasculopathy in patients with Fabry disease (1998) (168)
- Novel (ovario) leukodystrophy related to AARS2 mutations (2014) (165)
- Elevated Cerebral Blood Flow Velocities in Fabry Disease With Reversal After Enzyme Replacement (2002) (162)
- Ovarian failure related to eukaryotic initiation factor 2B mutations. (2003) (162)
- A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. (2013) (161)
- Enzyme replacement therapy in Fabry disease (2001) (160)
- Case definition and classification of leukodystrophies and leukoencephalopathies. (2015) (157)
- Clinical features of and recent advances in therapy for Fabry disease. (2000) (156)
- Agalsidase alfa and kidney dysfunction in Fabry disease. (2009) (156)
- Glucosylceramide and Glucosylsphingosine Modulate Calcium Mobilization from Brain Microsomes via Different Mechanisms* (2003) (151)
- The efficacy of enzyme replacement therapy in patients with chronic neuronopathic Gaucher's disease. (2001) (150)
- The effect of genotype on the natural history of eIF2B-related leukodystrophies (2004) (147)
- Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease. (2003) (147)
- Enhanced calcium release in the acute neuronopathic form of Gaucher disease (2005) (146)
- The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat (2016) (144)
- Quantitative analysis of epidermal innervation in Fabry disease (1999) (143)
- Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3. (2003) (142)
- The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase (2010) (140)
- Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations (2014) (140)
- Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. (2011) (134)
- The cerebral vasculopathy of Fabry disease (2007) (132)
- The Relationship of Vascular Glycolipid Storage to Clinical Manifestations of Fabry Disease: A Cross-Sectional Study of a Large Cohort of Clinically Affected Heterozygous Women (2005) (130)
- New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum. (2002) (128)
- Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. (2007) (127)
- Enhanced Endothelium-Dependent Vasodilation in Fabry Disease (2001) (126)
- Enzyme-Replacement Therapy With Agalsidase Alfa in Children With Fabry Disease (2006) (123)
- Early Alterations of Brain Cellular Energy Homeostasis in Huntington Disease Models* (2011) (120)
- Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus (2002) (116)
- Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. (2000) (114)
- Natural history and treatment of renal involvement in Fabry disease. (2002) (112)
- Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings (2012) (112)
- A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV (2014) (112)
- Divergent phenotypes in Gaucher disease implicate the role of modifiers (2005) (110)
- Whole exome sequencing in patients with white matter abnormalities (2016) (109)
- Prospective study of neurological responses to treatment with macrophage‐targeted glucocerebrosidase in patients with type 3 Gaucher's disease (1997) (109)
- Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. (2017) (108)
- The effect of cholesterol‐lowering agents on hepatic and plasma cholesterol in Niemann‐Pick disease type C (1993) (106)
- Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement (2006) (105)
- Physiological characterization of neuropathy in Fabry's disease (2002) (104)
- Myoclonic Epilepsy in Gaucher Disease: Genotype-Phenotype Insights from a Rare Patient Subgroup (2003) (103)
- Gaucher disease: Progress and ongoing challenges. (2017) (102)
- Cellular and tissue localization of globotriaosylceramide in Fabry disease (2007) (99)
- Foamy cells with oligodendroglial phenotype in childhood ataxia with diffuse central nervous system hypomyelination syndrome (2000) (96)
- White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions (2003) (95)
- Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease (2002) (95)
- Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts (2016) (95)
- Alexander disease (2006) (94)
- Management of neuronopathic Gaucher disease: Revised recommendations (2009) (94)
- The latest on leukodystrophies (2004) (93)
- Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice. (1999) (91)
- Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. (2014) (91)
- Enzyme-replacement therapy for metabolic storage disorders (2004) (90)
- Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients (2004) (88)
- Constitutive achlorhydria in mucolipidosis type IV. (1998) (88)
- Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. (1999) (86)
- Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia (2006) (84)
- Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients (2005) (84)
- Effect of genetic modifiers on cerebral lesions in Fabry disease (2005) (83)
- A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease (2011) (81)
- Enzyme replacement therapy and intraepidermal innervation density in Fabry disease (2006) (80)
- Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation. (2019) (77)
- Proton magnetic resonance spectroscopic imaging in childhood ataxia with diffuse central nervous system hypomyelination (1995) (76)
- Update on Leukodystrophies: A Historical Perspective and Adapted Definition (2016) (76)
- Growth factors and stromal support generate very efficient retroviral transduction of peripheral blood CD34+ cells from Gaucher patients. (1995) (76)
- 5 Neuronopathic forms of Gaucher's disease (1997) (73)
- Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease. (2006) (73)
- Pathophysiology and assessment of neuropathic pain in Fabry disease (2002) (72)
- Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV (2004) (71)
- Leukodystrophy in patients with ovarian dysgenesis (1997) (70)
- Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency (2015) (70)
- Diagnosis, prognosis, and treatment of leukodystrophies (2019) (69)
- Characterization of tiger-tail banding and hair shaft abnormalities in trichothiodystrophy. (2004) (67)
- Identification of fifteen novel mutations and genotype–phenotype relationship in Fabry disease (2001) (67)
- Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease. (2010) (66)
- Childhood ataxia with CNS hypomyelination/vanishing white matter disease--a common leukodystrophy caused by abnormal control of protein synthesis. (2006) (64)
- Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice (2015) (64)
- Fabry disease. (2009) (64)
- Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy. (2002) (63)
- Selective Arterial Distribution of Cerebral Hyperperfusion in Fabry Disease (2001) (63)
- Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: An arterial spin tagging study (2004) (63)
- The Saccadic and Neurological Deficits in Type 3 Gaucher Disease (2011) (61)
- Mucolipidosis type IV (1998) (59)
- Biomarkers of Fabry disease nephropathy. (2010) (58)
- Proteomics of specific treatment-related alterations in Fabry disease: A strategy to identify biological abnormalities (2007) (56)
- Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. (2000) (55)
- Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1‐year Phase 1/2 clinical trial (2019) (55)
- Hypomyelination with atrophy of the basal ganglia and cerebellum (2007) (53)
- Altered Dopamine and Serotonin Metabolism in Motorically Asymptomatic R6/2 Mice (2011) (53)
- Proton magnetic resonance spectroscopic imaging in the clinical evaluation of patients with Niemann-Pick type C disease (1998) (52)
- Screening for pharmacological chaperones in Fabry disease. (2007) (52)
- Correction of the enzyme deficiency in hematopoietic cells of Gaucher patients using a clinically acceptable retroviral supernatant transduction protocol. (1994) (52)
- Diffuse central neuronal involvement in Fabry disease (1999) (51)
- Genetic and Clinical Heterogeneity in eIF2B-Related Disorder (2008) (51)
- Is it Fabry disease? (2016) (51)
- A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects (2016) (50)
- Noninvasive diagnosis and ophthalmic features of mucolipidosis type IV. (2002) (49)
- An update on the leukodsytrophies (2001) (49)
- TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes (2017) (49)
- TUBB4A de novo mutations cause isolated hypomyelination (2014) (49)
- GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1. (2011) (48)
- Five patients with a recently described novel leukoencephalopathy with brainstem and spinal cord involvement and elevated lactate. (2004) (48)
- Outcome of partial splenectomy for type I Gaucher disease. (1995) (48)
- Cutaneous silent periods in patients with Fabry disease (2000) (48)
- Screening for known mutations in EIF2B genes in a large panel of patients with premature ovarian failure (2004) (47)
- 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. (2012) (47)
- Identification of a Biomarker in Cerebrospinal Fluid for Neuronopathic Forms of Gaucher Disease (2015) (45)
- Effect of agalsidase alfa replacement therapy on Fabry disease-related hypertrophic cardiomyopathy: a 12- to 36-month, retrospective, blinded echocardiographic pooled analysis. (2009) (45)
- Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. (2005) (45)
- Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease (2006) (45)
- The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells (2019) (44)
- Auditory analysis of xeroderma pigmentosum 1971-2012: hearing function, sun sensitivity and DNA repair predict neurological degeneration. (2013) (44)
- Therapeutic approaches for neuronopathic lysosomal storage disorders (2010) (44)
- Eukaryotic Initiation Factor 2B (eIF2B) GEF Activity as a Diagnostic Tool for EIF2B-Related Disorders (2009) (43)
- Transfer of the human glucocerebrosidase gene into hematopoietic stem cells of nonablated recipients: successful engraftment and long-term expression of the transgene. (1995) (43)
- Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease. (2008) (43)
- Molecular diagnostics for myelin proteolipid protein gene mutations in Pelizaeus-Merzbacher disease. (1992) (42)
- Obstructive hypertrophic adenoids and tonsils as a cause of infantile failure to thrive: reversed by tonsillectomy and adenoidectomy. (1985) (41)
- Parapelvic kidney cysts: a distinguishing feature with high prevalence in Fabry disease. (2004) (41)
- The pharmacology of multiple regimens of agalsidase alfa enzyme replacement therapy for Fabry disease (2007) (41)
- Fabry disease. (2015) (40)
- Niemann-Pick disease type C. From bench to bedside. (1996) (40)
- A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease (2015) (40)
- Arterial Wall Properties and Womersley Flow in Fabry Disease (2002) (38)
- Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone (2008) (38)
- Quantitative dysmorphology assessment in Fabry disease (2006) (38)
- Disease specific therapies in leukodystrophies and leukoencephalopathies. (2015) (38)
- Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter (2012) (38)
- Neuronopathic forms of Gaucher's disease. (1997) (37)
- Evidence for neuroaxonal injury in patients with proteolipid protein gene mutations (2001) (37)
- Cellular and tissue distribution of intravenously administered agalsidase alfa. (2007) (37)
- Enzyme Replacement in Fabry Disease: Pharmacokinetics and Pharmacodynamics of Agalsidase Alfa in Children and Adolescents (2007) (36)
- XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms. (2009) (36)
- Time series proteome profiling to study endoplasmic reticulum stress response. (2008) (36)
- Oral and craniofacial findings in Fabry's disease: a report of 13 patients. (2001) (34)
- Neuropathy and Fabry disease: pathogenesis and enzyme replacement therapy. (2006) (34)
- The definition of neuronopathic Gaucher disease (2020) (34)
- Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA). (2009) (33)
- Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. (2017) (33)
- Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease. (2015) (33)
- Enzymatic and functional correction along with long-term enzyme secretion from transduced bone marrow hematopoietic stem/progenitor and stromal cells derived from patients with Fabry disease. (1999) (32)
- Transient neonatal hyperglycinemia (1989) (31)
- Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study (2014) (31)
- Fabry's disease—an important risk factor for stroke (2005) (31)
- Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia. (1999) (31)
- Fabry Disease: A Disorder of Childhood Onset. (2016) (31)
- BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases (2016) (30)
- Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease (2009) (30)
- Skin ultrastructural findings in type 2 Gaucher disease: diagnostic implications. (2011) (30)
- Natural history of Fabry disease in males: preliminary observations (2001) (30)
- Quantitative neuroimaging in mucolipidosis type IV. (2014) (29)
- Leukodystrophy-associated POLR3A mutations down-regulate the RNA polymerase III transcript and important regulatory RNA BC200 (2019) (29)
- Establishment and characterization of Fabry disease endothelial cells with an extended lifespan. (2007) (29)
- Mucolipidosis IV consists of one complementation group. (1999) (28)
- Membrane phospholipids and high-energy metabolites in childhood ataxia with CNS hypomyelination (2003) (28)
- CSF and Blood Levels of GFAP in Alexander Disease (2015) (28)
- Diffuse Neuroaxonal Involvement in Mucolipidosis IV as Assessed by Proton Magnetic Resonance Spectroscopic Imaging (2003) (27)
- Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (2019) (27)
- Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide (2014) (27)
- Skin abnormalities as an early predictor of neurologic outcome in Gaucher disease (2006) (26)
- Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain. (2005) (26)
- MS screening strategies: investigating the glycomes of knockout and myodystrophic mice and leukodystrophic human brains. (2002) (26)
- Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease (2001) (26)
- CSF N-Glycan Profiles to Investigate Biomarkers in Brain Developmental Disorders: Application to Leukodystrophies Related to eIF2B Mutations (2012) (26)
- More Than Hypomyelination in Pol-III Disorder (2013) (24)
- Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa (2013) (24)
- Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort (2019) (24)
- Insertion of mutant proteolipid protein results in missorting of myelin proteins (2003) (24)
- PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: identification of one partial triplication and two partial deletions of PLP1 (2006) (23)
- Elevated endothelial microparticles in Fabry children decreased after enzyme replacement therapy. (2007) (23)
- Sensitivity and specificity of decreased CSF asialotransferrin for eIF2B-related disorder (2008) (22)
- Evaluation of the endoplasmic reticulum-stress response in eIF2B-mutated lymphocytes and lymphoblasts from CACH/VWM patients (2010) (22)
- Genome sequencing in persistently unsolved white matter disorders (2020) (22)
- Enzyme Replacement in Fabry Disease: The Essence Is in the Kidney (2007) (22)
- New Prospects for the Treatment of Lysosomal Storage Diseases (2012) (21)
- Gaucher mutation N188S is associated with myoclonic epilepsy (2005) (21)
- Isolated ocular disease is associated with decreased mucolipin-1 channel conductance. (2008) (21)
- Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice. (2015) (20)
- Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease. (2007) (20)
- Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice (2011) (20)
- Myoclonus in Gaucher disease. (2002) (19)
- Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial (2018) (19)
- Elevated CNS average diffusion constant in Fabry disease (2002) (18)
- Abnormal glycogen in astrocytes is sufficient to cause adult polyglucosan body disease (2012) (18)
- Neuronopathic Gaucher Disease (2006) (18)
- UNIPARENTAL DISOMY OF CHROMOSOME 1 CAUSING CONCURRENT CHARCOT-MARIE-TOOTH AND GAUCHER DISEASE TYPE 3 (2008) (18)
- Oculomotor and Vestibular Findings in Gaucher Disease Type 3 and Their Correlation with Neurological Findings (2018) (17)
- Golli‐MBP Copy Number Analysis by FISH, QMPSF and MAPH in 195 Patients with Hypomyelinating Leukodystrophies (2006) (17)
- Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease (2020) (17)
- Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases (2010) (17)
- Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases. (2010) (16)
- An open-label clinical trial of agalsidase alfa enzyme replacement therapy in children with Fabry disease who are naïve to enzyme replacement therapy (2016) (16)
- Genomic abnormalities of the murine model of Fabry disease after disease-related perturbation, a systems biology approach (2007) (16)
- Characterization of Transferrin Glycopeptide Structures in Human Cerebrospinal Fluid. (2012) (16)
- Developmental Splicing Deregulation in Leukodystrophies Related to EIF2B Mutations (2012) (16)
- Free sialic acid storage disease without sialuria (2009) (14)
- Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt (2016) (14)
- Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C (2020) (14)
- Skin-impedance in Fabry Disease: A prospective, controlled, non-randomized clinical study (2008) (14)
- Unexpected occurrence of xeroderma pigmentosum in an uncle and nephew. (2009) (14)
- GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1 (2012) (14)
- Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease (2017) (14)
- Unique molecular signature in mucolipidosis type IV microglia (2019) (13)
- Urinary 11-Dehydro-Thromboxane B2 and Mortality in Patients With Stable Coronary Artery Disease. (2017) (13)
- An autosomal recessive form of benign familial neonatal seizures (1991) (13)
- Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivo (2017) (13)
- Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3). (2009) (12)
- Symptoms and Quality of Life in Patients with Fabry Disease: Results from an International Patient Survey (2019) (12)
- A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. (2001) (12)
- Variation in cognitive function over time in Gaucher disease type 3 (2019) (11)
- Enzyme Replacement Therapy in Orphan and Ultra-Orphan Diseases (2012) (11)
- Fabry disease: angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function. (2005) (11)
- Electroencephalographic findings in patients with mucolipidosis type IV. (1998) (11)
- Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative (2020) (11)
- Dystonia in RNA Polymerase III‐Related Leukodystrophy (2019) (11)
- Fatal infantile leukodystrophy: A severe variant of CACH/VWM syndrome, allelic to chromosome 3q27 (2002) (10)
- D-DEMØ, a distinct phenotype caused by ATP1A3 mutations (2020) (10)
- Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders (2020) (10)
- A double-blind, placebo-controlled trial of triheptanoin in adult polyglucosan body disease and open-label, long-term outcome (2018) (10)
- Migalastat for the treatment of Fabry disease (2018) (9)
- The consequences of genetic and pharmacologic reduction in sphingolipid synthesis (2015) (9)
- Nonketotic hyperglycinemia presenting with pin-point pupils and hyperammonemia. (1992) (9)
- Neurological manifestations of Fabry disease (2006) (8)
- Expanded phenotype of AARS1-related white matter disease (2021) (8)
- Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease (2008) (8)
- Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study (2019) (8)
- Residual thromboxane activity and oxidative stress: influence on mortality in patients with stable coronary artery disease (2017) (8)
- Long-term follow-up of renal function in patients treated with migalastat for Fabry disease (2021) (8)
- Oxidative stress reflected by increased F2-isoprostanes is associated with increasing urinary 11-dehydro thromboxane B2 levels in patients with coronary artery disease. (2016) (8)
- Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model. (2006) (8)
- Development of enzyme replacement therapy for Fabry disease (2006) (8)
- Posterior Fossa Abnormalities in Children With Infantile Spasms (1993) (8)
- Low frequency of Fabry disease in patients with common heart disease (2018) (7)
- HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner (2013) (7)
- Fabry's Disease (2003) (6)
- Neurological effects of enzyme replacement therapy in Fabry disease (2006) (6)
- Five novel mutations in fourteen patients with Fabry disease (2000) (6)
- SP004EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE (2018) (6)
- Priapism in a Fabry disease mouse model is associated with upregulated penile nNOS and eNOS expression (2018) (6)
- Venglustat combined with imiglucerase positively affects neurological features and brain connectivity in adults with Gaucher disease type 3 (2020) (6)
- Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy. (2018) (6)
- OBSERVATION 4 H Syndrome With Late-Onset Growth Hormone Deficiency Caused by POLR 3 A Mutations (2012) (6)
- Possible future therapies for Fabry disease (2006) (6)
- The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease (2019) (6)
- Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells (2010) (5)
- Venglustat in adult Gaucher disease type 3: Preliminary safety, pharmacology, and exploratory efficacy from a phase 2 trial in combination with imiglucerase (LEAP) (2019) (5)
- Neurogenic bladder and neuroendocrine abnormalities in Pol III-related leukodystrophy (2015) (5)
- Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus. (2021) (5)
- Prognostic value of urinary 11‐dehydro‐thromboxane B2 for mortality: A cohort study of stable coronary artery disease patients treated with aspirin (2018) (5)
- A prospective 10 year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease (2015) (5)
- Long-term follow up and sudden unexpected death in Gaucher disease type 3 in Egypt (2016) (5)
- EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review. (2020) (5)
- Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model (2020) (5)
- Tetrahydrobiopterin Concentrations in Normal and Coronary Artery Diseased Heart Tissue (2016) (4)
- FOAMY OLIGODENDROGLIA CONTAINING MUL1 ILAMINAR AND MULTILOCULAR STRUCTURES-ADISTINCTIVE FEATURE IN CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL NERVOUS SYSTEM HYPOMYELINATION SYNDROME (1998) (4)
- Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency (1992) (4)
- TACH Leukodystrophy: Locus Refinement to Chromosome 10q22.3-23.1 (2012) (4)
- Five novel mutations in fourteen patients with Fabry Disease. (2000) (4)
- Cerebrotendinous xanthomatosis (2018) (4)
- Once every 4 weeks - 2 mg/kg of pegunigalsidase alfa for treating Fabry disease Preliminary results of a phase 3 study (2019) (4)
- Real time peripheral arterial flow and wall properties derived by pulse waveform analysis and B-mode ultrasound imaging (2001) (3)
- Phenotype of Fabry disease in patients with mutations amenable to migalastat (2016) (3)
- Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19 (2009) (3)
- Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: Phase 3 study results (2015) (3)
- GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination (2019) (3)
- Therapy Trial Design in Vanishing White Matter (2022) (3)
- Brain pathology and cerebellar purkinje cell loss in a mouse model of chronic neuronopathic Gaucher disease (2020) (3)
- Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3. (2021) (3)
- Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy (2007) (3)
- Agalsidase treatment for Fabry disease: Uses and rivalries (2010) (3)
- PRX-102 for treating Fabry disease: immunogenicity and PK results from a phase 1-2 study (2017) (2)
- Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study (2017) (2)
- A Systematic Review of The Humanistic Burden of Disease In Patients With Fabry Disease. (2015) (2)
- Leukoencephalopathy: "Before concluding treatment efficacy...". (2015) (2)
- Conversion of a normal MRI into an MRI showing a cystic leukoencephalopathy is not a known feature of vanishing white matter. (2007) (2)
- Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. (2017) (2)
- Leukodystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY (1993) (2)
- Slip bands in quenched AlZn alloys (1985) (2)
- Migalastat Tissue Distribution: Extrapolation From Mice to Humans Using Pharmacokinetic Modeling and Comparison With Agalsidase Beta Tissue Distribution in Mice (2021) (2)
- Renal outcomes with up to 9 years of migalastat in patients with Fabry disease: Results from an open-label extension study (2018) (2)
- NEUROPATHOLOGIC CLUES TO LAMINAR NEURONAL CELL LOSS IN NEURONOPATHIC GAUCHER DISEASE (1998) (2)
- 84Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT (2017) (2)
- Novel treatment for Fabry disease: IV administration of plant derived alpha-gal-A enzyme safety and efficacy interim report (2016) (1)
- SP002CLINICAL OUTCOMES WITH MIGALASTAT IN PATIENTS WITH FABRY DISEASE BASED ON DEGREE OF RENAL IMPAIRMENT: RESULTS FROM PHASE 3 TRIALS (2018) (1)
- 113. Identification of Fabry disease-causing mutations that are responsive to the pharmacological chaperone AT1001 (2008) (1)
- Assessment of saccadic eye movement in chronic neuronopathic Gaucher disease (2003) (1)
- Abnormal intracellular calcium handling: a key pathogenic and therapeutic target of the cardiac manifestations in Fabry disease (2014) (1)
- Cerebral Microangiopathy in Leukoencephalopathy With Cerebral Calcifications and Cysts: A Pathological Description (2020) (1)
- COVID-19 patient impact: A survey of the Gaucher community involving patients, caregivers and family members based in the US to determine impact of the pandemic (2021) (1)
- Analysis of the baseline characteristics of Fabry disease patients screened for the pegunigalsidase alfa phase III BALANCE study (2019) (1)
- Safety and effect of open-label agalsidase alfa in treatment-naïve children with Fabry disease (2014) (1)
- Compound heterozygosis of a splice site and the common Ashkenazi Jewish mutation in GBE1 causes adult onset polyglucosan body disease. (P2.026) (2015) (1)
- Agalsidase alfa in pediatric patients with Fabry disease: A 7-year open-label study (2013) (1)
- Pegunigalsidase alfa, a novel PEGylated ERT for Fabry disease: Two-year safety and efficacy follow up (2018) (1)
- Increased Urinary Globotriaosylceramide and Previously Undiagnosed Fabry Patients are Found in a Non-Selected Heart Disease Patient Population (2012) (1)
- Decision support for diagnosis (2012) (1)
- Skin Manifestations of Fabry Disease—Reply (2001) (1)
- Vanishing white matter disease (2020) (1)
- The significance of lysosomal inclusions in Fabry disease (2006) (1)
- Accurate quantitation of plasma globotriaosylsphingosine (lyso-Gb3) in normal individuals and Fabry disease patients by liquid chromatography–tandem mass spectrometry (LC–MS/MS) (2015) (1)
- A genetic form of achlorhydria and gastritis. (2015) (1)
- Leukoencephalopathy (2015) (1)
- D-DEMO, A Novel and Distinct Phenotype Caused by ATP1A3 Mutations (P4.157) (2017) (1)
- An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease (2022) (1)
- An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006) (2015) (1)
- Neuronopathic phenotypes of Gaucher disease (2013) (1)
- Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease (2020) (1)
- White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology (2021) (1)
- Molecular basis for globotriaosylceramide regulation and enzyme uptake in immortalized aortic endothelial cells from Fabry mice (2016) (1)
- Natural history of cardiac involvement in hemizygote Fabry patients (2002) (1)
- Brain MRI and motor function in leukodystrophies (2016) (1)
- Effects of treatment with migalastat on the combined endpoint of kidney globotriaosylcermide accumulation and diarrhea in patients with Fabry disease: results from the phase 3 FACETS study (2017) (1)
- Directed Drug Convection Using Magnetic Nanoparticles as Therapeutic Carriers: Meeting the Challenge of Specific Brain Pharmacotherapeutics, Non-Ligand-Based Central Nervous System Targeting, Including Magnetic Focusing (2013) (1)
- Gaucher Disease: Neuronopathic Forms (2015) (1)
- Figure 4. [Demyelinating leukodystrophy – patterns on...]. (2014) (1)
- The sub-cellular localization globotriaosylceramide in Fabry disease (2008) (1)
- Improvement in gastrointestinal symptoms observed in the phase 3 FACETS (AT1001-011) study of migalastat in patients affected with Fabry disease (2015) (1)
- Corrigendum to "Long-term follow-up of renal function in patients treated with migalastat for Fabry disease" [Bichet et al., MGM Reports; 28 (2021) 100786]. (2021) (0)
- Enzyme replacement therapy for Fabry's disease Reply (2010) (0)
- α-Galactosidase A activity modulates DNA methylation of androgen receptor promoter in Fabry disease endothelial cells (2018) (0)
- Enzyme replacement therapy for Fabry's disease – Authors' reply (2010) (0)
- Figure 4. [Parasagittal T1-weighted MRI image of...]. (2012) (0)
- Optimizing human α-galactosidase for treatment of Fabry disease (2023) (0)
- Assessment of Visual Function in Mucolipidosis IV Using ERG, VEP and TAC (2002) (0)
- Successful management of a young male with a severe phenotype associated with glucocerebrosidase (GBA) deficiency: a case presentation (2008) (0)
- Effects of genetic background on disease phenotypes in a mouse model of Fabry disease (2019) (0)
- Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease (2020) (0)
- Long-acting glyco-design (LAGD) for improved kinetics and distribution of α-galactosidase A (2020) (0)
- Lyso−Gb is not a predictive biomarker of treatment response in migalastat-treated patients with migalastat-amenable variants (2020) (0)
- Images in clinical medicine. Fabry's disease. (2003) (0)
- Disease : Improving Global Outcomes ” ( KDIGO ) Screening , diagnosis , and management of patients with Fabry disease : conclusions from a “ Kidney Controversies Conference (0)
- Low frequency of Fabry disease in patients with common heart disease (2017) (0)
- [Figure, MRI of an individual with...] (2012) (0)
- Response of patients with Fabry disease with the amenable GLA mutation p.N215S to treatment with migalastat (2017) (0)
- transplantation Chronic kidney disease : including end-stage renal disease requiring renal replacement therapy with dialysis or renal transplantation Stroke or transient ischemic attacks Deafness , of acute or chronic onset R Schiffmann (0)
- Pegunigalsidase alfa, PEGylated α-galactosidase-A enzyme in development for the treatment of Fabry disease, shows correlation between renal GB3 inclusion clearance and reduction of plasma Lyso-GB3 (2020) (0)
- Tetrahydrobiopterin in Fabry disease (2014) (0)
- Table 1. [Leukodystrophies Meeting Strict Diagnostic Criteria]. (2014) (0)
- Figure 7. [Features associated with specific leukodystrophiesA...]. (2014) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Mucolipidosis IV]. (2015) (0)
- Cerebellar Ataxia and Elevated Cerebrospinal Free Sialic Acid (2009) (0)
- Update on the Long-Term Treatment with Agalsidase Alfa for Fabry Disease (2007) (0)
- Increased F2-isoprostane oxidative stress in coronary artery disease (CAD) patients with poor aspirin-induced thromboxane B2 inhibition (2016) (0)
- [Infantile neuroaxonal dystrophy]. (1992) (0)
- Blocking androgen receptor signaling ameliorates Fabry disease in mice (2014) (0)
- 122. Mucolipidosis type IV is both a developmental brain disease and a degenerative retinopathy (2009) (0)
- 27 Fabry disease—A patient and knock-out mouse study utilizing a systems biology approach (2007) (0)
- Correction: Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease (2020) (0)
- Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource. (2023) (0)
- Chapter 81 – Fabry's Disease (2005) (0)
- Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial (2022) (0)
- Replacement Therapy Elevated Endothelial Microparticles in Fabry Children Decreased After Enzyme (2011) (0)
- Figure 6. [Algorithm Part 2: Hypomyelinating conditionsAdapted from Schiffmann & van der Knaap [2009]]. (2014) (0)
- Figure 1. [Hypomyelinating leukodystrophy has T2-weighted hyperintensity...]. (2014) (0)
- Lysosomal Disorders of the Brain, Platt FM, Walkley SU (Eds.). Oxford University Press (2004), £85, 447 pp, ISBN: 0 19 850878 6 (2004) (0)
- Studies on patients with an unclassified leukodystrophy (1996) (0)
- 628: Cellular and tissue distribution of globotriaosylceramide in fabry disease (2007) (0)
- Gaucher disease—neuronopathic forms (2020) (0)
- Tu-P7:239 Cellular and tissue distribution of globotriaosylceramide (GB3) in fabry disease (FD) (2006) (0)
- Cardiac effects of 4D-310 in adults with Fabry disease in a phase 1/2 clinical trial: Functional, quality of life, and imaging endpoints in patients with 12 months of follow up (2023) (0)
- High incidence of GLA variants in a non-selected heart disease patient population suggests that the Fabry trait is a common cardiovascular genetic risk factor (2013) (0)
- List of contributors. (2019) (0)
- Reply (1994) (0)
- Figure 3. [Confluent white matter lesions are...]. (2014) (0)
- Genetic diseases / Molecular mechanisms (2011) (0)
- One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy (2017) (0)
- Pegunigalsidase alfa, a novel PEGylated ERT, evaluated in Fabry disease patients with progressing kidney disease, RCT study design (2020) (0)
- Ela Foundation Organization Chart Board of Trustees Scientific Committee Steering Committee Table of Contents (0)
- Is Fabry disease frequently undiagnosed in patients with common heart disease (2017) (0)
- Disorders of the Nervous System CSF and Blood Levels of GFAP in Alexander Disease 1 , 2 , 3 (0)
- Figure 5. [Algorithm Part 1: Demyelinating and...]. (2014) (0)
- List of contributors (2020) (0)
- Media Watch Lysosomal Disorders of the Brain Platt FM (2004) (0)
- DeepGestalt as a potential novel method to help discriminate between the Gaucher disease subtypes (2021) (0)
- Dystonia in POLR3-related leukodystrophy (P5.144) (2016) (0)
- Figure 4, [(a) Serial axial fluid-attenuated inversion...]. (2006) (0)
- Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Characteristics of Vitamin C Renal Leak (2023) (0)
- Ten years of migalastat treatment in a patient with Fabry disease: A case report (2018) (0)
- Comparison of single and multiple doses of agalsidase alfa on tissue accumulation of globotriaosylcermide in Fabry knockout mice (2002) (0)
- Enhanced pharmacokinetics profile of pegunigalsidase alfa (PRX-102) supports once-monthly 2mg/kg dosing for the treatment of Fabry disease (2018) (0)
- Sortilin expression and uptake of α-galactosidase A: A general mechanism of endocytosis in Fabry disease cell types (2016) (0)
- Engineering α-galactosidase A (GLA) to improve protein stability, efficacy and reduced immune response for the treatment of Fabry disease (2020) (0)
- Unique molecular signature in mucolipidosis type IV microglia (2019) (0)
- Relationship of platelet thromboxane inhibition by aspirin and all-cause mortality in patients with stable coronary artery disease. (2017) (0)
- 62 Alternative dosing regimens of agalsidase alfa (Replagal®) in Fabry disease (2007) (0)
- Characterization of epilepsy in a large Egyptian Gaucher disease type 3 (GD3) cohort: A 12-year prospective study (2019) (0)
- Dysregulated DNA methylation in the pathogenesis of Fabry disease (2019) (0)
- Is mucolipidosis type IV a neurodegenerative disorder (2014) (0)
- White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology (2021) (0)
- Table 3. [Selected MCOLN1 Pathogenic Variants]. (2015) (0)
- Vitamin C Urinary Loss in Fabry Disease: Clinical and Genomic Factors of Vitamin C Renal Leak (2022) (0)
- 106. Natural history of Fabry disease: Progression of the nephropathy in a large series of affected males and heterozygous females (2008) (0)
- MO068EFFICACY AND SAFETY OF MIGALASTAT, AN ORAL PHARMACOLOGICAL CHAPERONE FOR FABRY DISEASE: RENAL FINDINGS FROM TWO RANDOMIZED PHASE 3 STUDIES (FACETS AND ATTRACT) (2017) (0)
- O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV* (2023) (0)
- The glycosylation design space for recombinant lysosomal replacement enzymes produced in CHO cells (2019) (0)
- A pharmacogenetic analysis of Fabry patient responses to pharmacological chaperone treatment with AT1001 (migalastat hydrochloride) (2011) (0)
- The natural history of cognition in Gaucher disease type 3 (2019) (0)
- In vitro modeling Fabry heart disease using induced pluripotent stem cells (2013) (0)
- A 7-year quantitative neurological natural history in mucolipidosis type IV (2018) (0)
- Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study (2017) (0)
- O41 – 1941 Mutation spectrum and clinical characteristics in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) (2013) (0)
- Fabry disease and vascular risk factors: future strategies for patient‐based studies and the knockout murine model (2006) (0)
- The validation of pharmacogenetics in the identification of patients with Fabry disease for treatment with migalastat (2016) (0)
- Table 4. [Selected EIF2B5 Pathogenic Variants]. (2012) (0)
- WITHDRAWN: 80 Alternative dosing regimens of agalsidase alfa (Replagal®) in Fabry disease (2007) (0)
- ' s response to reviews Title : Evaluation of the endoplasmic reticulum-stress response in eIF 2 B-mutated lymphocytes and lymphoblasts from CACH / VWM patients (2010) (0)
- The role of androgen receptor pathway in pathogenesis of Fabry disease and its therapeutic implications (2013) (0)
- Elevated Counts of Circulating Endothelial Microparticles in Pediatric Fabry Patients Decreased after Enzyme Replacement Therapy. (2006) (0)
- 107 Two-year oral miglustat in Gaucher disease type III (2007) (0)
- A welcome introduction to leukodystrophies Gerald V Raymond Florian S (2011) (0)
- Moss-aGal: Preclinical evaluation of a plant made enzyme replacement for Fabry disease (2016) (0)
- A 5-year neurological natural history of mucolipidosis type IV (2016) (0)
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What Schools Are Affiliated With Raphael Schiffmann?
Raphael Schiffmann is affiliated with the following schools:
