Associated Papers
Fabry disease caused by the GLA p.Gly183Asp (p.G183D) variant: Clinical profile of a serious phenotype.
Liu Z et al.
Molecular Genetics and Metabolism Reports, 2024
Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.
Alfen F et al.
International Journal of Molecular Sciences, 2022
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 2021
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients.
Nampoothiri S et al.
Jimd Reports, 2020
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: How to guide the diagnostic strategy?
Azevedo O et al.
American Heart Journal, 2020
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype.
Azevedo O et al.
Molecular Genetics and Metabolism, 2020
Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.
Lukas J et al.
International Journal of Molecular Sciences, 2020
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
Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C.
Oliván-Viguera A et al.
Frontiers in Physiology, 2017
The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations.
Citro V et al.
International Journal of Molecular Sciences, 2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
Predictors of outcome in a Spanish cohort of patients with Fabry disease on enzyme replacement therapy.
Goicoechea M et al.
Nefrologia, 0