Makale
Tam Makale
Uluslararası
2017
Açık erişimli
Infantile Nephropathic Cystinosis: A Novel CTNS Mutation
EURASIAN JOURNAL OF MEDICINE
Cilt 49 · Sayı 2 · ss. 148–151 · 01.06.2017
Özet
Cystinosis is a rare autosomal recessive metabolic disorder characterized by the accumulation of cystine in lysosomes, which results from defects in the carrier-mediated transport protein encoded by the CTNS gene. Infantile nephropathic cystinosis (INC) is one of the major complications of cystinosis. It is characterized by findings of Fanconi's syndrome within the first year of life. Here we report two patients with INC presenting with signs of Fanconi's syndrome and describe a novel CTNS mutation.
Atıf için künye
Döneray, H., Aldahmesh, M., Yılmaz, G., Çinici, E., & Orbak, Z. (2017). Infantile Nephropathic Cystinosis: A Novel CTNS Mutation. EURASIAN JOURNAL OF MEDICINE, 49(2), 148–151. https://doi.org/10.5152/eurasianjmed.2017.17039
BibTeX
@article{doneray2017-222685,
author = {Döneray, Hakan and Aldahmesh, Mohammed and Yılmaz, Gulsah and Çinici, Emine and Orbak, Zerrin},
title = {Infantile Nephropathic Cystinosis: A Novel CTNS Mutation},
journal = {EURASIAN JOURNAL OF MEDICINE},
year = {2017},
volume = {49},
number = {2},
pages = {148--151},
issn = {1308-8734},
doi = {10.5152/eurasianjmed.2017.17039},
url = {https://akademik.atauni.edu.tr/yayinlar/222685-infantile-nephropathic-cystinosis-a-novel-ctns-mutation}
}