Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-K-ATP channel mutations

Demirbilek, HÜSEYİN; Arya, Ved; Nuri, Mehmet; Houghton, Jayne; Baran, Riza; Akar, Melek; Tekes, Selahattin; Tuzun, Heybet; Mackay, Deborah; Flanagan, Sarah; Hattersley, Andrew; Ellard, Sian; Hussain, Khalid

doi:10.1530/eje-14-0852

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-K-ATP channel mutations

Demirbilek H., Arya V. B., Nuri M., Houghton J. A. L., Baran R. T., Akar M., ...Daha Fazla

EUROPEAN JOURNAL OF ENDOCRINOLOGY, cilt.172, sa.6, ss.697-705, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 172 Sayı: 6
Basım Tarihi: 2015
Doi Numarası: 10.1530/eje-14-0852
Dergi Adı: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.697-705
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Hacettepe Üniversitesi Adresli: Evet

Özet

Background: Neonatal diabetes mellitus (NDM) is a rare form of monogenic diabetes and usually presents in the first 6 months of life. We aimed to describe the clinical characteristics and molecular genetics of a large Turkish cohort of NDM patients from a single centre and estimate an annual incidence rate of NDM in South-Eastern Anatolian region of Turkey.