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A novel mutation of ABCC8 gene in a patient with diazoxide-unresponsive congenital hyperinsulinism

Ji Sook Park, Hong-Jun Lee, Chan-Hoo Park

Clin Exp Pediatr. 2016;59(Suppl 1):S116-S120. Published online November 30, 2016

Crossref 5

Congenital hyperinsulinism (CHI) is a rare condition that can cause irreversible brain damage during the neonatal period owing to the associated hypoglycemia. Hypoglycemia in CHI occurs secondary to the dysregulation of insulin secretion. CHI has been established as a genetic disorder of islet-cell hyperplasia, associated with a mutation of the ABCC8 or KCNJ11 genes, which encode the sulfonylurea receptor 1...

DOI: https://doi.org/10.3345/kjp.2016.59.11.S116

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