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Neural deficits contribute to respiratory insufficiency in Pompe disease
Pompe disease is a severe form of muscular dystrophy due to glycogen accumulation in all tissues, especially striated muscle. Disease severity is directly related to the deficiency of acid α-glucosidase (GAA), which degrades glycogen in the lysosome. Respiratory dysfunction is a hallmark of the dise...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
National Academy of Sciences
2009
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2695054/ https://ncbi.nlm.nih.gov/pubmed/19474295 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0902534106 |
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