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SUN-690 HNF4A Mutation in Siblings with Diazoxide Responsive Congenital Hyperinsulinism

Background: Congenital hyperinsulinism (HI) is the leading cause of severe, persistent hypoglycemia in infants. Transient HI seen at risk neonates due to prenatal stress and some of the congenital HI cases due to mutations in K-ATPase channel are responsive to diazoxide. It is not a common practice...

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Détails bibliographiques
Publié dans:J Endocr Soc
Auteurs principaux: Erkin-Cakmak, Ayca, Chesser, Hannah, Shieh, Joseph, Ferrara, Christine, Gitelman, Stephen Eric, Capodanno, Gina
Format: Artigo
Langue:Inglês
Publié: Oxford University Press 2020
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7207411/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1205
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