Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: Initial response to oral sulphonylurea therapy
JOURNAL OF PEDIATRICS, vol.153, no.1, pp.122-126, 2008 (SCI-Expanded)
- Publication Type: Article / Article
- Volume: 153 Issue: 1
- Publication Date: 2008
- Doi Number: 10.1016/j.jpeds.2007.12.037
- Journal Name: JOURNAL OF PEDIATRICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.122-126
- Akdeniz University Affiliated: Yes
Abstract
Objective To evaluate the clinical response to sulphonylurea treatment in a child with a homozygous T168A GCK (glucokinase) mutation, causing permanent neonatal diabetes mellitus (PNDM).