Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study

• Autors principals: Malak Alghamdi (Autor), Khalid A. Alhasan (Autor), Areej Taha Elawad (Autor), Suha Salim (Autor), Marwa Abdelhakim (Autor), Marwan Nashabat (Autor), Rupesh Raina (Autor), Jameela Kari (Autor), Majid Alfadhel (Autor)
• Format: Llibre
• Publicat: Frontiers Media S.A., 2020-11-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis diseases, cystinuria is potentially treatable, and fur...