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Type I cystinuria and its genetic basis in a population of Turkish school children
(BLACKWELL PUBLISHING, 2007)
Objectives: Cystinuria is a common inherited disorder characterized by an abnormal urinary excretion of cystine and dibasic amino acids resulting in nephrolithiasis. The SLC3A1 gene, which encodes a dibasic amino acid ...
Analysis of a 1-year-old cystinuric patient with recurrent renal stones
(BLACKWELL PUBLISHING, 2006)
Cystinuria is a hereditary disorder of cystine and dibasic amino acids (lysine, arginine, ornithine) transport across the luminal membrane of renal tubules and intestine, resulting in recurrent nephrolithiasis. Cystine ...