1988
DOI: 10.3109/10408368809105891
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Cystinuria

Abstract: Cystinuria is an inherited metabolic disease resulting in renal stone formation. An incidence of 1 in 7000 makes it a relatively common genetic disease. The biochemical defect is a carrier protein in the epithelial cells of certain organs. This carrier protein is responsible for the transport of cystine and the dibasic amino acids. Cystine is a poorly soluble compound which precipitates in acid urine and results in renal calculi. Cystine stones account for 1 to 2% of all renal calculi. Homozygotes are detected… Show more

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Cited by 3 publications
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