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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| Principais autores: | , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI AG
2020-09-01
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| Serier: | Biomolecules |
| Fag: | |
| Online adgang: | https://www.mdpi.com/2218-273X/10/9/1339 |
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