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The impact of Pompe disease on smooth muscle: a review
Pompe disease (OMIM 232300) is an autosomal recessive disorder caused by mutations in the gene encoding acid α-glucosidase (GAA) (EC 3.2.1.20), the enzyme responsible for hydrolyzing lysosomal glycogen. The primary cellular pathology is lysosomal glycogen accumulation in cardiac muscle, skeletal mus...
Guardat en:
| Publicat a: | J Smooth Muscle Res |
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| Autors principals: | , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Japan Society of Smooth Muscle Research
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6380904/ https://ncbi.nlm.nih.gov/pubmed/30787211 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1540/jsmr.54.100 |
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