Associated Papers
Impact of GLA Variant Classification on the Estimated Prevalence of Fabry Disease: A Systematic Review and Meta-Analysis of Screening Studies.
Monda E et al.
Circulation. Genomic and Precision Medicine, 2023
38047356 (PubMed )
Supplement: circgenetics_circcvg-2023-004252-t_supp1.pdf
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Liao HC et al.
Molecular Genetics and Metabolism, 2018
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 › Non-Classic
Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.
Pan X et al.
Plos One, 2016
High-throughput detection of common sequence variations of Fabry disease in Taiwan using DNA mass spectrometry.
Lee SH et al.
Molecular Genetics and Metabolism, 2014
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Lin HY et al.
Circulation. Cardiovascular Genetics, 2009
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