Late-onset and classic phenotypes of Fabry disease in males with the GLA -Thr410Ala mutation.
Open heart(2023)
摘要
The T410A/ mutation caused late-onset FD with progressive cardiomyopathy in elder male, and classic FD in young males of the same family. Varying levels of α-Gal A and lyso-Gb analogues reflected variable phenotype of FD in the family.
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关键词
Biomarkers,Cardiomyopathy, Hypertrophic,Metabolic Diseases
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