Associated Papers
Bilateral avascular necrosis: A rare complication of Fabry disease.
Romano C et al.
Molecular Genetics and Metabolism Reports, 2025
Variable clinical features of patients with Fabry disease and outcome of enzyme replacement therapy.
Dutra-Clarke M et al.
Molecular Genetics and Metabolism Reports, 2021
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
Mutational analysis of the GLA gene in Mexican families with Fabry disease.
Gutiérrez-Amavizca BE et al.
Journal of Genetics, 2017
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
Germain DP et al.
The New England Journal of Medicine, 2016
27509102 (PubMed )
Supplement: nejmoa1510198_protocol.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
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Shabbeer J et al.
Human Genomics, 2006
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J et al.
Human Mutation, 2005
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