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

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...

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Bibliographic Details
Published in:Korean J Pediatr
Main Authors: Park, Ji Sook, Lee, Hong-Jun, Park, Chan-Hoo
Format: Artigo
Language:Inglês
Published: The Korean Pediatric Society 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5177692/
https://ncbi.nlm.nih.gov/pubmed/28018462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2016.59.11.S116
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