Different clinical entities of the same mutation: a case report of three sisters with Wolfram syndrome and efficacy of dipeptidyl peptidase-4 inhibitor therapy

TARÇIN G., TURAN H., Cakir A. D., ÖZER Y., AYKUT A., Durmaz A. A., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.8, ss.1049-1053, 2021 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 8
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0699
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.1049-1053
  • Anahtar Kelimeler: DIDMOAD, dipeptidyl peptidase-4, Wolfram, PHENOTYPE
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Objectives: Wolfram syndrome (WS) is a rarely seen autosomal recessive multisystem neurodegenerative disorder caused by mutations in the WFS1 gene.