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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...
שמור ב:
| הוצא לאור ב: | Biomolecules |
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| Main Authors: | , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
MDPI
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7564159/ https://ncbi.nlm.nih.gov/pubmed/32962155 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/biom10091339 |
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