Cystinosis in Eastern Turkey


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

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, ss.965-969, 2016 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 29 Konu: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2014-0477
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayısı: ss.965-969

Özet

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.