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 (SCI-Expanded) identifier identifier identifier


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.