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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Detalhes bibliográficos
Publicado no:Front Endocrinol (Lausanne)
Main Authors: Hannibal, Luciana, Theimer, Jule, Wingert, Victoria, Klotz, Katharina, Bierschenk, Iris, Nitschke, Roland, Spiekerkoetter, Ute, Grünert, Sarah C.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7719825/
https://ncbi.nlm.nih.gov/pubmed/33329388
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fendo.2020.579981
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