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Diagnostic tools in late onset Pompe disease (LOPD)
Pompe disease is a rare metabolic disorder due to deficiency of the lysosomal acid alpha-glucosidase (GAA) that causes glycogen accumulation in all tissues with a predominant involvement of skeletal muscle. The late onset form of Pompe disease (LOPD) is characterized by a progressive weakness of pro...
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| Veröffentlicht in: | Ann Transl Med |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
AME Publishing Company
2019
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6642940/ https://ncbi.nlm.nih.gov/pubmed/31392198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2019.06.60 |
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