JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.29, no.8, pp.965-969, 2016 (Journal Indexed in SCI)
Article / Article
Title of Journal :
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
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.