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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Veröffentlicht in:Hum Mol Genet
Hauptverfasser: Orhan Akman, H., Emmanuele, Valentina, Kurt, Yasemin Gülcan, Kurt, Bülent, Sheiko, Tatiana, DiMauro, Salvatore, Craigen, William J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2015
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Articles
Online Zugang: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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