Congenital Hyperinsulinism Caused by a De Novo Mutation in the ABCC8 Gene - A Case Report

Congenital hyperinsulinism (CHI) is a rare genetic disorder characterized by inappropriate insulin secretion and severe hypoglycaemia. There are two histological subtypes: diffuse and focal form. Diffuse form is most common in autosomal recessive mutations in ABCC8/KCNJ11 gene, while focal CHI is ca...

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Опубликовано в: :EJIFCC
Главные авторы: Molnár, Zsuzsanna, Balogh, Lfdia, Kappelmayer, János, Madar, László, Gombos, Éva, Balogh, István
Формат: Artigo
Язык:Inglês
Опубликовано: The Communications and Publications Division (CPD) of the IFCC 2017
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5387702/
https://ncbi.nlm.nih.gov/pubmed/28439221
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