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Progress and problems in muscle glycogenoses

In this selective review, we consider a number of unsolved questions regarding the glycogen storage diseases (GSD). Thus, the pathogenesis of Pompe disease (GSD II) is not simply explained by excessive intralysosomal glycogen storage and may relate to a more general dysfunction of autophagy. It is n...

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Detalles Bibliográficos
Autores principales: DiMauro, S., Spiegel, R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3235878/
https://www.ncbi.nlm.nih.gov/pubmed/22106711