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Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen branching enzyme (GBE). The diagnostic feature of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heteroge...

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Detalhes bibliográficos
Main Authors: Akman, H. Orhan, Sheiko, Tatiana, Tay, Stacey K.H., Finegold, Milton J., DiMauro, Salvatore, Craigen, William J.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3196891/
https://ncbi.nlm.nih.gov/pubmed/21856731
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr371
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