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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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Pubblicato in:J Endocr Soc
Autori principali: Erkin-Cakmak, Ayca, Chesser, Hannah, Shieh, Joseph, Ferrara, Christine, Gitelman, Stephen Eric, Capodanno, Gina
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2020
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Accesso online: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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