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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...
| Autores principales: | , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Dove Medical Press
2007
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721312/ https://www.ncbi.nlm.nih.gov/pubmed/19707330 |