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Showing 1 to 1 of 1 for “"Cystinurie"”.
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Mutationsspektrum in den Genen SLC3A1 und SLC7A9 bei jugendlichen Cystinuriepatienten
Cystinuria is a hereditary kidney stone disease which is caused by a renal tubular defect of reabsorption of cystine and the dibasic amino acids lysine, arginine and ornithine. Once the threshold of solubility is exceeded cystine precipitates and subsequently patients suffer from recurrent kidney …