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PubMed 25308342


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Automatically associated channels: Kir1.1 , Kir6.2



Title: Permanent neonatal diabetes misdiagnosed as type 1 diabetes in a 28-year-old female: a life-changing diagnosis.

Authors: Yotsapon Thewjitcharoen, Ekgaluck Wanothayaroj, Thep Himathongkam, Sarah E Flanagan, Sian Ellard, Andrew T Hattersley

Journal, date & volume: Diabetes Res. Clin. Pract., 2014 Nov , 106, e22-4

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25308342


Abstract
Many patients with monogenic diabetes are missed or misclassified. Herein, we report a 28-year-old Indian female who developed diabetes at the age of 3 months. An audit of our type 1 diabetes database led to her genetic testing. A KCNJ11 mutation was identified and she was successfully switched to sulphonylurea.