Cystinosis in Eastern Turkey

Dogan M., Bulan K., Kaba S., CESUR Y., Ceylaner S., Ustyol L.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.29, sa.8, ss.965-969, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 29 Sayı: 8
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1515/jpem-2014-0477
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.965-969
  • Van Yüzüncü Yıl Üniversitesi Adresli: Evet

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.