Clinical and Enzymatic Phenotypes in Congenital Hyperinsulinemic Hypoglycemia due to Glucokinase ‐activating Mutations: a report of two cases and a brief overview of literature

ConclusionThe clinical phenotypes of GCK ‐CHIs were highly heterogeneous. We have identified two novel GCK‐CHI mutations in young patients and investigated their pathogenicity by enzyme kinetic analysis, which expanded the spectrum of this rare disease.This article is protected by copyright. All rights reserved.
Source: Journal of Diabetes Investigation - Category: Endocrinology Authors: Tags: Original Article Source Type: research