Associated Papers
Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M et al.
American Journal of Medical Genetics. Part A, 2022
Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort.
Maruyama H et al.
Current Issues in Molecular Biology, 2021
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
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Yoshida S et al.
Orphanet Journal of Rare Diseases, 2020
Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease.
Varela P et al.
Frontiers in Genetics, 2019
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