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Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6- phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). A third disorder, G6Pase-β deficiency, shares similarities with this group...

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Détails bibliographiques
Auteurs principaux: Chou, Janice Y., Jun, Hyun Sik, Mansfield, Brian C.
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4178929/
https://ncbi.nlm.nih.gov/pubmed/20975743
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrendo.2010.189
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