https://scholars.lib.ntu.edu.tw/handle/123456789/596901
Title: | Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening | Authors: | NI-CHUNG LEE Chang, Kai-Ling In 't Groen, Stijn L M de Faria, Douglas O S Huang, Hsiang-Ju Pijnappel, W W M Pim WUH-LIANG HWU YIN-HSIU CHIEN |
Keywords: | enzyme replacement therapy; genetic variations; glycogen storage disease type II; hypotonia; manifestation–neuromuscular | Issue Date: | 4-Jan-2022 | Source: | The Journal of pediatrics | Abstract: | To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS). |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/596901 | ISSN: | 00223476 | DOI: | 10.1016/j.jpeds.2021.12.072 |
Appears in Collections: | 醫學系 |
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