The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis


TOPALOĞLU R., GÜLHAN B., INOZU M., Canpolat N. , YILMAZ A., NOYAN A., ...Daha Fazla

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, cilt.12, ss.1634-1641, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 12 Konu: 10
  • Basım Tarihi: 2017
  • Doi Numarası: 10.2215/cjn.00180117
  • Dergi Adı: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
  • Sayfa Sayıları: ss.1634-1641

Özet

Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.