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

Atıf İçin Kopyala

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)

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
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.