Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Akman, H. Orhan, Sheiko, Tatiana, Tay, Stacey K.H., Finegold, Milton J., DiMauro, Salvatore, Craigen, William J.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2011
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!