Metabolic Profiling in Human Fibroblasts Enables Subtype Clustering in Glycogen Storage Disease

Glycogen storage disease subtypes I and III (GSD I and GSD III) are monogenic inherited disorders of metabolism that disrupt glycogen metabolism. Unavailability of glucose in GSD I and induction of gluconeogenesis in GSD III modify energy sources and possibly, mitochondrial function. Abnormal mitoch...

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Autors principals:	Luciana Hannibal, Jule Theimer, Victoria Wingert, Katharina Klotz, Iris Bierschenk, Roland Nitschke, Ute Spiekerkoetter, Sarah C. Grünert
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2020-11-01
Col·lecció:	Frontiers in Endocrinology
Matèries:	inborn error of metabolism metabolism metabolomics mitochondria glycogen storage disease energy deficiency
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fendo.2020.579981/full
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