Article
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
The Journal of pediatrics - 1 Jun 2011
Chien Yin-Hsiu, Lee Ni-Chung, Huang Hsiang-Ju, Thurberg Beth L, Tsai Fuu-Jen, Hwu Wuh-Liang
Abstract excerpt
OBJECTIVE: To determine whether newborn screening facilitates early detection and thereby early treatment initiation for later-onset Pompe disease. STUDY DESIGN: We have conducted a newborn screening program since 2005. Newborns with deficient skin fibroblast acid α-glucosidase activity and two acid α-glucosidase gene mutations but no cardiomyopathy were defined as having later-onset Pompe disease, and their...
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