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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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| Hauptverfasser: | , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Frontiers Media S.A.
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4135233/ https://ncbi.nlm.nih.gov/pubmed/25183957 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnagi.2014.00177 |
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