Cystinosis in Eastern Turkey


Dogan M., Bulan K., Kaba S., Cesur Y. , CEYLANER S., Ustyol L.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.8, pp.965-969, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 29 Issue: 8
  • Publication Date: 2016
  • Doi Number: 10.1515/jpem-2014-0477
  • Title of Journal : JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Page Numbers: pp.965-969

Abstract

Background: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in Turkey.