Associated Papers
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
COVID-19 in Fabry disease: a reference center prospective study.
Bothou C et al.
Orphanet Journal of Rare Diseases, 2022
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease.
Nowak A et al.
Journal of Medical Genetics, 2022
Globotrioasylsphingosine Levels and Optical Coherence Tomography Angiography in Fabry Disease Patients.
Wiest MRJ et al.
Journal of Clinical Medicine, 2021
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
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
Liguori R et al.
Plos One, 2017
Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.
Cecconi M et al.
International Journal of Molecular Medicine, 2016
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
[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
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Ashton-Prolla P et al.
Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2000
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
Glass RB et al.
Journal of Computer Assisted Tomography, 0