Publications by authors named "Ming-Jia Hsu"
Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulations before the occurrence of typical pathological changes in the endomyocardial biopsies of Fabry disease patients.
Ming-Jia Hsu Fu-Pang Chang Yung-Hsiu Lu Sheng-Che Hung Yu-Chen Wang Ting-Rong Hsu Po-Hsun Huang Chia-Lin Hsu
Genet Med
January 2019
Article Synopsis
- The study evaluates the early effects of late-onset Fabry disease (FD) and emphasizes the importance of starting enzyme replacement therapy (ERT) early to stabilize the disease and prevent irreversible damage.
- The research involved examining endomyocardial biopsies from patients with suspected Fabry cardiomyopathy using immunofluorescent staining to detect Gb3 deposits.
- Results showed that significant Gb3 deposits were present in cardiomyocytes even in patients without observable inclusion bodies, indicating early cellular stress before typical disease symptoms appear.