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Prematurity, macrosomia, hyperinsulinaemic hypoglycaemia and a dominant ABCC8 gene mutation

Congenital hyperinsulinism (CHI) is a rare cause of hyperinsulinaemic hypoglycaemia (HH) and is due to an inappropriate secretion of insulin by the pancreatic β-cells. Genetic defects in key genes lead to dysregulated insulin secretion and consequent hypoglycaemia. Mutations in the genes ABCC8/KCNJ1...

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Détails bibliographiques
Auteurs principaux: Khoriati, Dana, Arya, Ved Bhushan, Flanagan, Sarah E, Ellard, Sian, Hussain, Khalid
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 2013
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3645779/
https://ncbi.nlm.nih.gov/pubmed/23563683
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2013-008767
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