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: | , |
|---|---|
| Other Authors: | |
| Format: | Others |
| Language: | zh-TW |
| Published: |
2009
|
| Online Access: | http://ndltd.ncl.edu.tw/handle/06212714314510906060 |