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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Detalles Bibliográficos
Autores principales: Hannibal, Luciana, Theimer, Jule, Wingert, Victoria, Klotz, Katharina, Bierschenk, Iris, Nitschke, Roland, Spiekerkoetter, Ute, Grünert, Sarah C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719825/
https://www.ncbi.nlm.nih.gov/pubmed/33329388
http://dx.doi.org/10.3389/fendo.2020.579981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7719825/
https://www.ncbi.nlm.nih.gov/pubmed/33329388
http://dx.doi.org/10.3389/fendo.2020.579981

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