Associated Papers
Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2025
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
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
Newborn screening for Fabry disease in the western region of Japan.
Sawada T et al.
Molecular Genetics and Metabolism Reports, 2020
Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease.
Tsujiuchi M et al.
International Heart Journal, 2019
Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.
Maruyama H et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease.
Wakakuri H et al.
International Heart Journal, 2016
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