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Two cases of Pompe's disease: case report and review of literature
Glycogen storage disease type II (also called Pompe's disease or acid maltase deficiency) is an autosomal recessive metabolic disorder which causes an accumulation of glycogen in the lysosomes due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage dise...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3861064/ https://ncbi.nlm.nih.gov/pubmed/22572506 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/S0019-4832(12)60067-4 |
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