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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Endocr Soc
Egile Nagusiak: Erkin-Cakmak, Ayca, Chesser, Hannah, Shieh, Joseph, Ferrara, Christine, Gitelman, Stephen Eric, Capodanno, Gina
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2020
Gaiak:
Diabetes Mellitus and Glucose Metabolism
Sarrera elektronikoa: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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