Article
High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.
Circulation. Cardiovascular genetics - 1 Oct 2009
Lin Hsiang-Yu, Chong Kah-Wai, Hsu Ju-Hui, Yu Hsiao-Chi, Shih Chun-Che, Huang Cheng-Hung, Lin Shing-Jong, Chen Chen-Huan, Chiang Chuan-Chi, Ho Huey-Jane, Lee Pi-Chang, Kao Chuan-Hong, Cheng Kang-Hsiang, Hsueh Chuen, Niu Dau-Ming
Abstract excerpt
BACKGROUND: Fabry disease is a treatable lysosomal storage disorder, which is often misdiagnosed or belatedly diagnosed. METHODS AND RESULTS: To determine the disease incidence in the Taiwan Chinese population, a Fabry disease newborn screening study was initiated. A total of 110 027 newborns wer...
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