Associated Papers
Clinical characteristics and interdepartmental collaboration for patients with Anderson-Fabry disease in Shiga Prefecture, Japan.
Tomioka D et al.
Molecular Genetics and Metabolism Reports, 2025
Identification of c.146G > A mutation in a Fabry patient and its correction by customized Cas9 base editors in vitro.
Yang Z et al.
International Journal of Biological Macromolecules, 2024
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Sawada T et al.
Molecular Genetics & Genomic Medicine, 2020
33016649 (PubMed )
Supplement: MGG3-8-e1502-s001.xlsx › Table_S1
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
32843101 (PubMed )
Supplement: 13023_2020_1494_MOESM3_ESM.xlsx › Table_2
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
A missense mutation of the α-galactosidase A gene in a Chinese family of Fabry disease with renal failure.
Wang C et al.
Kidney & Blood Pressure Research, 2013
Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal).
Tsuboi K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R).
Suzuki K et al.
Clinical and Experimental Nephrology, 2011
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