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, cilt.153, sa.1, ss.122-126, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 153 Sayı: 1
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1016/j.jpeds.2007.12.037
  • Dergi Adı: JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.122-126
  • Akdeniz Üniversitesi Adresli: Evet

Özet

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).