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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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Detalhes bibliográficos
Publicado no:BMC Nephrol
Main Authors: Obaid, Abdulrahman, Nashabat, Marwan, Al Fakeeh, Khalid, Al Qahtani, Abdullah T., Alfadhel, Majid
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5292799/
https://ncbi.nlm.nih.gov/pubmed/28166740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-017-0469-x
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