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The Respiratory Phenotype of Pompe Disease Mouse Models
Pompe disease is a glycogen storage disease caused by a deficiency in acid α-glucosidase (GAA), a hydrolase necessary for the degradation of lysosomal glycogen. This deficiency in GAA results in muscle and neuronal glycogen accumulation, which causes respiratory insufficiency. Pompe disease mouse mo...
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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7139647/ https://ncbi.nlm.nih.gov/pubmed/32214050 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21062256 |
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