Cystinosis in Eastern Turkey

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Copy For Citation

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)

• Publication Type: Article / Article
• Volume: 29 Issue: 8
• Publication Date: 2016
• Doi Number: 10.1515/jpem-2014-0477
• Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.965-969
• Van Yüzüncü Yıl University Affiliated: Yes

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.