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Glycogenosome accumulation in the arrector pili muscle in Pompe disease
BACKGROUND: Glycogenosis type II or Pompe disease is an autosomal-recessive lysosomal storage disease due to mutations in the gene encoding acid alpha-glucosidase (GAA), an enzyme required for lysosomal glycogen degradation. The disease predominantly affects the skeletal and respiratory muscles but...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3922310/ https://www.ncbi.nlm.nih.gov/pubmed/24495340 http://dx.doi.org/10.1186/1750-1172-9-17 |