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Showing 1 to 4 of 4 for “"cystinuria"”.
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Dietary Control of Cystinuria in Maned Wolves (Chrysocyon Brachyurus)
… are threatened in part by a condition called cystinuria. In humans and rats, cystinuria is caused by mutations of the rBAT gene, expressed in intestinal mucosal cells and renal tubules. In dogs, only renal tubules are affected. Cystinuric individuals exhibit impaired capacity for reabsorption …
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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 …
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Investigating Potential Therapies to Decrease the Rate of Cystine Stone Growth in Slc3a1-/- Mice
<p>Cystinuria is an autosomal recessive disorder characterized by a defective renal transporter involved in the reabsorption of cystine and other dibasic amino acids. This leads to an accumulation of cystine in the urine, resulting in cystine stones. The SLC3A1/SLC7A9 cystine transporter accounts …
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The Effects of Various Therapeutics on Cystine Stone Formation
<p>Cystinuria is an autosomal recessive genetic disorder characterized by the defect of a renal transporter involved in cystine reabsorption. When this transporter is deficient, cystine cannot be broken down and reabsorbed by the body and is excreted via urine in high concentrations. The high …