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


Tarcin G., TURAN H., Cakir A. D., Ozer Y., AYKUT A., Durmaz A. A., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.34, no.8, pp.1049-1053, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 8
  • Publication Date: 2021
  • Doi Number: 10.1515/jpem-2020-0699
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.1049-1053
  • Keywords: DIDMOAD, dipeptidyl peptidase-4, Wolfram, PHENOTYPE
  • Istanbul University Affiliated: No

Abstract

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