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Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resid...

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Detalles Bibliográficos
Autores principales: Meena, Naresh K., Raben, Nina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7564159/
https://www.ncbi.nlm.nih.gov/pubmed/32962155
http://dx.doi.org/10.3390/biom10091339