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Role of autophagy in the pathogenesis of Pompe disease

In Pompe disease, a deficiency of lysosomal acid alpha-glucosidase, glycogen accumulates in multiple tissues, but clinical manifestations are mainly due to skeletal and cardiac muscle involvement. A major advance has been the development of enzyme replacement therapy (ERT), which recently became ava...

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Autors principals: Raben, N, Roberts, A, Plotz, PH
Format: Artigo
Idioma:Inglês
Publicat: Pacini Editore SpA 2007
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2949326/
https://ncbi.nlm.nih.gov/pubmed/17915569
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