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
Population Frequency of Undiagnosed Fabry Disease in the General Population.
Kermond-Marino A et al.
Kidney International Reports, 2023
37441486 (PubMed )
Supplement: mmc1.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 › Unknown
Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.
Liao HC et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014
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
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