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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf
Magnetic Resonance Imaging Findings Related to Stroke Risk in Japanese Patients With Fabry Disease.
Yagita Y et al.
Stroke, 2019
31337300 (PubMed )
Supplement: str_stroke-2019-025528_supp1.pdf
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 › Unknown
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
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
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