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
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.pdf
Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.
Liu F et al.
Signal Transduction and Targeted Therapy, 2021
33563892 (PubMed )
Supplement: 41392_2020_412_MOESM17_ESM.xlsx › Supplementary_Table_S16
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
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