Associated Papers
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
27657681 (PubMed )
Supplement: gim2016122x1.zip › Supplemental_Appendix_2_12152015.xlsx › Classic
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
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: kidney involvement and enzyme replacement therapy.
Siamopoulos KC
Kidney International, 2004
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Shabbeer J et al.
Molecular Genetics and Metabolism, 2002
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