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A review of treatment of Pompe disease in infants
The glycogen storage disease type II (GSD-II), or Pompe disease, is due to the deficit of lysosomal glycogen degradation enzyme acid α-glucosidase (GAA). In infants, Pompe disease is characterized by prominent hypotonia, muscle weakness, motor delay, feeding problems, and respiratory and cardiac ins...
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Asıl Yazarlar: | , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Dove Medical Press
2007
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Konular: | |
Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2721312/ https://ncbi.nlm.nih.gov/pubmed/19707330 |
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