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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Alghamdi, Malak, Alhasan, Khalid A., Taha Elawad, Areej, Salim, Suha, Abdelhakim, Marwa, Nashabat, Marwan, Raina, Rupesh, Kari, Jameela, Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7686133/
https://www.ncbi.nlm.nih.gov/pubmed/33262960
http://dx.doi.org/10.3389/fped.2020.569389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7686133/
https://www.ncbi.nlm.nih.gov/pubmed/33262960
http://dx.doi.org/10.3389/fped.2020.569389

Ejemplares similares