https://scholars.lib.ntu.edu.tw/handle/123456789/627059
標題: | Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease | 作者: | Hsu, Yu-Kang YIN-HSIU CHIEN STEVEN SHINN-FORNG PENG WUH-LIANG HWU WANG-TSO LEE NI-CHUNG LEE Po-Yu Huang, Eric WEN-CHIN WENG |
關鍵字: | Brain MRI; IQ score; Infantile-onset Pompe disease; Neuroaxonal injury; Neurofilament light chain | 公開日期: | 一月-2023 | 卷: | 25 | 期: | 1 | 來源出版物: | Genetics in medicine : official journal of the American College of Medical Genetics | 摘要: | The study aimed to describe central nervous system (CNS) progression in patients with infantile-onset Pompe disease (IOPD) and explore the potential clinical impact and predictors. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/627059 | ISSN: | 10983600 | DOI: | 10.1016/j.gim.2022.10.005 |
顯示於: | 醫學系 |
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