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Delineation of cystinuria in Saudi Arabia: A case series

BACKGROUND: Cystinuria is an inherited metabolic disease that is caused by defects in two genes, SLC3A1 and SLC7A9, which result in a renal reabsorptive defect of cystine and other dibasic amino acids, including ornithine, arginine, and lysine. Patients usually present with recurrent renal calculi a...

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Detalles Bibliográficos
Autores principales: Obaid, Abdulrahman, Nashabat, Marwan, Al Fakeeh, Khalid, Al Qahtani, Abdullah T., Alfadhel, Majid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292799/
https://www.ncbi.nlm.nih.gov/pubmed/28166740
http://dx.doi.org/10.1186/s12882-017-0469-x

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