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...

Descripción completa

Detalles Bibliográficos
Autores principales: Molnár, Zsuzsanna, Balogh, Lfdia, Kappelmayer, János, Madar, László, Gombos, Éva, Balogh, István
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Communications and Publications Division (CPD) of the IFCC 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387702/
https://www.ncbi.nlm.nih.gov/pubmed/28439221

Ejemplares similares

Ejemplares similares