Article
Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
Hormone research in paediatrics - 1 Jan 2014
Mohnike Klaus, Wieland Ilse, Barthlen Winfried, Vogelgesang Silke, Empting Susann, Mohnike Wolfgang, Meissner Thomas, Zenker Martin
Abstract excerpt
Congenital hyperinsulinism (CHI) causes hypoglycemia due to irregular insulin secretion. In infants, a rapid diagnosis and appropriate management to avoid severe hypoglycemia is mandatory. CHI is a heterogeneous condition at the clinical and genetic level, and disease-causing genes have been identified in about half of the patients. The majority of mutations have been identified in the ABCC8 and KCNJ11 genes...
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