| Health / Medical Topics |
Cystinuria
An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder. (NCI Thesaurus)
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The determination of the amount of cystine present in a sample.
The determination of the amount of cystine crystals present in a sample.
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