Peripheral nerve and neuromuscular junction pathology in Pompe disease

Pompe disease is a systemic metabolic disorder characterized by lack of acid-alpha glucosidase (GAA) resulting in ubiquitous lysosomal glycogen accumulation. Respiratory and ambulatory dysfunction are prominent features in patients with Pompe yet the mechanism defining the development of muscle weak...

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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: Falk, Darin J., Todd, Adrian Gary, Lee, Sooyeon, Soustek, Meghan S., ElMallah, Mai K., Fuller, David D., Notterpek, Lucia, Byrne, Barry J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2015
Ämnen:
Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4291243/
https://ncbi.nlm.nih.gov/pubmed/25217571
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu476
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