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A novel mouse model that recapitulates adult-onset glycogenosis type 4
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme (GBE). The diagnostic hallmark of the disease is the accumulation of a poorly branched form of glycogen known as polyglucosan (PG). The disease is clinically heterog...
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Publicado no: | Hum Mol Genet |
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Main Authors: | , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Oxford University Press
2015
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4634380/ https://ncbi.nlm.nih.gov/pubmed/26385640 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv385 |
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