Associated Papers
Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.
Guo W et al.
Journal of Advanced Research, 2026
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.
García Hernandez S et al.
Circulation, 2025
40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.
Cognitive dysfunction and white matter hyperintensities in Fabry disease.
Murphy P et al.
Journal of Inherited Metabolic Disease, 2022
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
Germain DP et al.
Journal of Medical Genetics, 2015
25795794 (PubMed )
Supplement: jmedgenet-2014-102797-s1.pdf
Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.
Saito S et al.
Plos One, 2013
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E et al.
Human Mutation, 2005
[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: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Davies JP et al.
European Journal of Human Genetics : Ejhg, 1996
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