Associated Papers
Troponin rise in Fabry disease: an Australian perspective.
Kansal A et al.
Internal Medicine Journal, 2025
Fabry Disease Podocytes Reveal Ferroptosis as a Potential Regulator of Cell Pathology.
Wise AF et al.
Kidney International Reports, 2025
The Effect of Fabry Disease Therapy on Bone Mineral Density.
Aitken T et al.
Diseases (basel, Switzerland), 2024
8th Update on Fabry Disease: Biomarkers, Progression and Treatment Opportunities in 2024.
Unknown Author
Nephron, 2024
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals.
Ter Huurne M et al.
American Journal of Human Genetics, 2023
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
Hughes DA et al.
Journal of Medical Genetics, 2023
Ocular findings and their correlation with disease severity in Fabry disease in South-East Anatolia.
Mete A et al.
International Ophthalmology, 2023
Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease.
Cybulla M et al.
Journal of Clinical Medicine, 2022
Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders.
Verma J et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021
Oxidative stress biomarkers in Fabry disease: is there a room for them?
Simoncini C et al.
Journal of Neurology, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
Germain DP et al.
Journal of Medical Genetics, 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
Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase.
Cimmaruta C et al.
Bmc Bioinformatics, 2018
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
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
Hughes DA et al.
Journal of Medical Genetics, 2017
Absence of α-galactosidase cross-correction in Fabry heterozygote cultured skin fibroblasts.
Fuller M et al.
Molecular Genetics and Metabolism, 2015
New mutations in the GLA gene in Brazilian families with Fabry disease.
Turaça LT et al.
Journal of Human Genetics, 2012
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
Urinary lipid profiling for the identification of fabry hemizygotes and heterozygotes.
Fuller M et al.
Clinical Chemistry, 2005
Clinical features of Fabry's disease in Australian patients.
Galanos J et al.
Internal Medicine Journal, 2002
[Fabry's disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects].
Germain DP
Journal De La Societe De Biologie, 2002
Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.
Altarescu GM et al.
Clinical Genetics, 2001
A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene.
Blanch LC et al.
Human Mutation, 1996