Pompe disease: novel mutations and treatment outcome through newborn screening
博士 === 國立臺灣大學 === 臨床醫學研究所 === 97 === Background: Pompe disease is due to a deficiency of lysosomal acid alpha glucosidase (GAA), and currently an enzyme replacement therapy has been developed. In infantile-onset Pompe disease, enzyme replacement therapy can prolong survival and reverse cardiomegaly,...
Main Authors: | Yin-Hsiu Chien, 簡穎秀 |
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Other Authors: | Wuh-Liang Hwu |
Format: | Others |
Language: | zh-TW |
Published: |
2009
|
Online Access: | http://ndltd.ncl.edu.tw/handle/06212714314510906060 |
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