The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis

TOPALOĞLU, REZAN; GÜLHAN, Bora; INOZU, Mihriban; Canpolat, NUR; YILMAZ, Alev; NOYAN, Aytul; DURSUN, Ismail; GÖKÇE, Ibrahim; GURGOZE, Metin; AKINCI, Nurver; BASKIN, Esra; SERDAROĞLU, Erkin; KILIC, Beltinge; YÜKSEL, Selcuk; HACIHAMDIOGLU, Duygu; KORKMAZ, Emine; HAYRAN, Mutlu; ÖZALTIN, Fatih

doi:10.2215/cjn.00180117

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, sa.10, ss.1634-1641, 2017 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 12 Sayı: 10
Basım Tarihi: 2017
Doi Numarası: 10.2215/cjn.00180117
Dergi Adı: CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1634-1641
İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

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.