Associated Papers
Prevalence and Clinical Correlates of Cerebrovascular Alterations in Fabry Disease: A Cross-Sectional Study.
Di Natale D et al.
Brain Sciences, 2025
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
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.
Alfen F et al.
International Journal of Molecular Sciences, 2022
Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.
Ducatez F et al.
Journal of Personalized Medicine, 2021
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
Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.
Mauhin W et al.
Plos One, 2020
Macular Impairment in Fabry Disease: A Morpho-functional Assessment by Swept-Source OCT Angiography and Focal Electroretinography.
Minnella AM et al.
Investigative Ophthalmology & Visual Science, 2019
Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?
Duro G et al.
International Journal of Molecular Sciences, 2018
Deep characterization of the anti-drug antibodies developed in Fabry disease patients, a prospective analysis from the French multicenter cohort FFABRY.
Mauhin W et al.
Orphanet Journal of Rare Diseases, 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
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
Vascular endothelial growth factor (VEGF-a) in Fabry disease: association with cutaneous and systemic manifestations with vascular involvement.
Zampetti A et al.
Cytokine, 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
Pharmacological chaperone therapy for Fabry disease.
Ishii S
Proceedings of the Japan Academy. Series B, Physical and Biological Sciences, 2012
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
Functional studies of new GLA gene mutations leading to conformational Fabry disease.
Filoni C et al.
Biochimica Et Biophysica Acta, 2010