Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement

BACKGROUND: Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb). Glucose 6-phosphate (G6P) availability has been shown to modulate 11β-hydroxysteroid dehydrogenase type 1 (11βHSD1), an ER...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Rossi, Alessandro, Simeoli, Chiara, Salerno, Mariacarolina, Ferrigno, Rosario, Della Casa, Roberto, Colao, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo, Pivonello, Rosario, Melis, Daniela
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7169016/
https://ncbi.nlm.nih.gov/pubmed/32306986
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-020-01377-w
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