Article
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria.
Pediatric nephrology (Berlin, Germany) - 1 May 2000
Langen H, von Kietzell D, Byrd D, Arslan-Kirchner M, Vester U, Stuhrmann M, Dörk T, Saar K, Reis A, Schmidtke J, Brodehl J
Abstract excerpt
Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine. lysine and arginine leading to nephrolithiasis. Three cystinuria types can be distinguished by the mode of inheritance (true recessive or intermediate) and by the pattern of the intestinal amino acid transport. In the present study phenotypes were assessed by the urinary excretion of amino acids related...
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