Article
Modeling Phenotypic Heterogeneity of Glycogen Storage Disease Type 1a Liver Disease in Mice by Somatic CRISPR/CRISPR-associated protein 9-Mediated Gene Editing.
Hepatology (Baltimore, Md.) - 1 Nov 2021
Rutten Martijn G S, Derks Terry G J, Huijkman Nicolette C A, Bos Trijnie, Kloosterhuis Niels J, van de Kolk Kees C W A, Wolters Justina C, Koster Mirjam H, Bongiovanni Laura, Thomas Rachel E, de Bruin Alain, van de Sluis Bart, Oosterveer Maaike H
Abstract excerpt
BACKGROUND AND AIMS: Patients with glycogen storage disease type 1a (GSD-1a) primarily present with life-threatening hypoglycemia and display severe liver disease characterized by hepatomegaly. Despite strict dietary management, long-term complications still occur, such as liver tumor development. Variations in residual glucose-6-phosphatase (G6PC1) activity likely contribute to phenotypic heterogeneity in...
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