Associated Papers
Unveiling the characteristics of lobar-predominant cerebral microbleeds in Fabry disease.
Hsieh PF et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 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
Abnormal Pre-mRNA Splicing in Exonic Fabry Disease-Causing GLA Mutations.
Alfen F et al.
International Journal of Molecular Sciences, 2022
Genomic screening of Fabry disease in young stroke patients: the Taiwan experience and a review of the literature.
Lee TH et al.
European Journal of Neurology, 2019
30103270 (PubMed )
Supplement: ENE-26-553-s001.docx
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
Lu YH et al.
Journal of Human Genetics, 2018
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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