Associated Papers
Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Hughes DA et al.
Journal of Inherited Metabolic Disease, 2025
39031114 (PubMed )
Supplement: JIMD-48-0-s001.docx
A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.
Najafian B et al.
Kidney International, 2022
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
Boutin M et al.
International Journal of Molecular Sciences, 2020
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Germain DP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Benjamin ER et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease.
Boutin M et al.
Analytical Chemistry, 2014
24634980 (PubMed )
Supplement: ac404000d_si_001.pdf
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
Siekierska A et al.
The Journal of Biological Chemistry, 2012
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative.
Sirrs S et al.
Molecular Genetics and Metabolism, 2010
Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease.
Auray-Blais C et al.
Molecular Genetics and Metabolism, 2008
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
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