Associated Papers
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Viall S et al.
Molecular Genetics and Metabolism Reports, 2025
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease.
Hirose M et al.
Molecular Genetics and Metabolism Reports, 2023
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
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders KA et al.
International Journal of Neonatal Screening, 2020
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