Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: Initial response to oral sulphonylurea therapy


Turkkahraman D., Brcan I., Tribble N. D., Akcurin S., Ellard S., Gloyn A. L.

JOURNAL OF PEDIATRICS, vol.153, no.1, pp.122-126, 2008 (SCI-Expanded) identifier identifier identifier

  • 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).