Associated Papers
Fabry Disease Screening in Patients with Idiopathic HCM or LVH: Data from the Multicentric Nationwide F-CHECK Study.
Machado R et al.
Biomedicines, 2025
Overexpression of VEGFα as a biomarker of endothelial dysfunction in aortic tissue of α-GAL-Tg/KO mice and its upregulation in the serum of patients with Fabry's disease.
Lund N et al.
Frontiers in Cardiovascular Medicine, 2024
Fabry Disease Nephropathy: Histological Changes With Nonclassical Mutations and Genetic Variants of Unknown Significance.
Santostefano M et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2023
Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease.
Lenders M et al.
Frontiers in Immunology, 2022
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
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
Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre.
Rodrigues J et al.
European Journal of Medical Genetics, 2018
Fabry disease due to D313Y and novel GLA mutations.
Koulousios K et al.
Bmj Open, 2017
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
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
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
Lenders M et al.
Orphanet Journal of Rare Diseases, 2016
Serum-Mediated Inhibition of Enzyme Replacement Therapy in Fabry Disease.
Lenders M et al.
Journal of the American Society of Nephrology : Jasn, 2016
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
Lukas J et al.
Human Mutation, 2016
Impact of cysteine variants on the structure, activity, and stability of recombinant human α-galactosidase A.
Qiu H et al.
Protein Science : a Publication of the Protein Society, 2015
Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss in fabry disease?
Moura CP et al.
Jimd Reports, 2013
Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.
Young-Gqamana B et al.
Plos One, 2013
Fabry disease - underestimated in the differential diagnosis of multiple sclerosis?
Böttcher T et al.
Plos One, 2013
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.
Germain DP et al.
Orphanet Journal of Rare Diseases, 2012
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Wu X et al.
Human Mutation, 2011
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Andreotti G et al.
Orphanet Journal of Rare Diseases, 2010
Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.
Shin SH et al.
Pharmacogenetics and Genomics, 2008
Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D et al.
Human Mutation, 2001