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Pompe disease: from pathophysiology to therapy and back again

Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected. The cl...

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Detalhes bibliográficos
Main Authors: Lim, Jeong-A, Li, Lishu, Raben, Nina
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4135233/
https://ncbi.nlm.nih.gov/pubmed/25183957
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnagi.2014.00177
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