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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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Bibliographische Detailangaben
Veröffentlicht in:J Endocr Soc
Hauptverfasser: Erkin-Cakmak, Ayca, Chesser, Hannah, Shieh, Joseph, Ferrara, Christine, Gitelman, Stephen Eric, Capodanno, Gina
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2020
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Online Zugang: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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