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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Research
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker