Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in Turkey.

Denkboy Ongen Y., Eren E., Demirbas O., Sobu E., Ellard S., Tarim Ö. F., ...Daha Fazla

Journal of clinical research in pediatric endocrinology, cilt.13, ss.80-87, 2021 (SCI-Expanded) identifier identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 13
  • Basım Tarihi: 2021
  • Doi Numarası: 10.4274/jcrpe.galenos.2020.2020.0093
  • Dergi Adı: Journal of clinical research in pediatric endocrinology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Sayfa Sayıları: ss.80-87
  • Anahtar Kelimeler: Neonatal diabetes, genetic, sulfonylurea, monogenic diabetes, potassium channel, syndromic neonatal diabetes, SULFONYLUREA TREATMENT, ACTIVATING MUTATIONS, KIR6.2, MELLITUS, INSULIN
  • Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Objective: Neonatal diabetes mellitus (NDM) may be transient or permanent, and the majority is caused by genetic mutations. Early diagnosis is essential to select the patients who will respond to oral treatment. In this investigation, we aimed to present the phenotype and genotype of our patients with NDM and share our experience in a single tertiary center.