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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Detalles Bibliográficos
Autores principales: Lim, Jeong-A, Li, Lishu, Raben, Nina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2014
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135233/
https://www.ncbi.nlm.nih.gov/pubmed/25183957
http://dx.doi.org/10.3389/fnagi.2014.00177

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4135233/
https://www.ncbi.nlm.nih.gov/pubmed/25183957
http://dx.doi.org/10.3389/fnagi.2014.00177

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