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庞贝病诊断与治疗的研究进展
Pompe disease, also called type Ⅱ glycogen storage disease, is a rare autosomal recessive inherited disease caused by the storage of glycogen in lysosome due to acid α-glucosidase (GAA) defciency, with the most severe conditions in the skeletal muscle, the myocardium, and the smooth muscle. Patients...
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| 出版年: | Zhongguo Dang Dai Er Ke Za Zhi |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
中国当代儿科杂志编辑部
2018
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7389209/ https://ncbi.nlm.nih.gov/pubmed/30022764 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7499/j.issn.1008-8830.2018.07.015 |
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