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Seminars in Nephrology, 2008
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. The only clinically significant manifestation is recurrent nephrolithiasis secondary to the poor solubility of cystine in urine.
Aditya, Mattoo, David S, Goldfarb
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Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. The only clinically significant manifestation is recurrent nephrolithiasis secondary to the poor solubility of cystine in urine.
Aditya, Mattoo, David S, Goldfarb
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CRC Critical Reviews in Clinical Laboratory Sciences, 1988
Cystinuria is an inherited metabolic disease resulting in renal stone formation. An incidence of 1 in 7000 makes it a relatively common genetic disease. The biochemical defect is a carrier protein in the epithelial cells of certain organs. This carrier protein is responsible for the transport of cystine and the dibasic amino acids.
Ronald D. Feld, Zakariya K. Shihabi
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Cystinuria is an inherited metabolic disease resulting in renal stone formation. An incidence of 1 in 7000 makes it a relatively common genetic disease. The biochemical defect is a carrier protein in the epithelial cells of certain organs. This carrier protein is responsible for the transport of cystine and the dibasic amino acids.
Ronald D. Feld, Zakariya K. Shihabi
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Acta Paediatrica, 2006
AbstractCystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of ...
Luca, Dello Strologo +1 more
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AbstractCystinuria is an autosomal recessive disorder characterized by impaired transport of cystine, lysine, ornithine and arginine in the proximal renal tubule and in the epithelial cells of the gastrointestinal tract. Following recent progress in the genetic understanding of the disease, the traditional classification, based on the excretion of ...
Luca, Dello Strologo +1 more
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Endocrinology and Metabolism Clinics of North America, 1990
Cystinuria is an hereditary disorder of renal and intestinal transport characterized by the excessive urinary excretion of cystine, arginine, lysine, and ornithine. It is inherited as a common recessive gene with allelic mutations. Complementary studies of the plasma response to oral cystine loading, intestinal mucosal transport patterns, and urine ...
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Cystinuria is an hereditary disorder of renal and intestinal transport characterized by the excessive urinary excretion of cystine, arginine, lysine, and ornithine. It is inherited as a common recessive gene with allelic mutations. Complementary studies of the plasma response to oral cystine loading, intestinal mucosal transport patterns, and urine ...
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Journal of Endourology, 1997
We compared quantitative urinary cystine values in stone-forming family members and unaffected relatives based on an index stone-forming patient. A family pedigree of 39 members was identified. Quantitative urinalyses and serum biochemical profiles were collected with the subjects on similar diets over 72 hours. Detailed medical histories were obtained.
M L, Stoller +4 more
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We compared quantitative urinary cystine values in stone-forming family members and unaffected relatives based on an index stone-forming patient. A family pedigree of 39 members was identified. Quantitative urinalyses and serum biochemical profiles were collected with the subjects on similar diets over 72 hours. Detailed medical histories were obtained.
M L, Stoller +4 more
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The Lancet, 1983
46 pregnancies in patients with cystinuria treated with a high fluid intake alone or in combination with D-penicillamine resulted in 41 normal births. New stones formed in 18 pregnancies, with stone passage early in 4 of them. No patient required stone removal during pregnancy.
M C, Gregory, M A, Mansell
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46 pregnancies in patients with cystinuria treated with a high fluid intake alone or in combination with D-penicillamine resulted in 41 normal births. New stones formed in 18 pregnancies, with stone passage early in 4 of them. No patient required stone removal during pregnancy.
M C, Gregory, M A, Mansell
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2012
Cystinuria is an autosomal recessive inherited aminoaciduria leading to nephrolithiasis. Although its prevalence is lower than other renal stone diseases, cystinuria requires an appropriate and specific support. Extracorporeal lithotripsy is relatively inefficient against cystine stones, thus limiting treatment options.
Letavernier, E. +4 more
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Cystinuria is an autosomal recessive inherited aminoaciduria leading to nephrolithiasis. Although its prevalence is lower than other renal stone diseases, cystinuria requires an appropriate and specific support. Extracorporeal lithotripsy is relatively inefficient against cystine stones, thus limiting treatment options.
Letavernier, E. +4 more
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Nephrologie & therapeutique, 2021
Cystinuria is the most common monogenic nephrolithiasis disorder. Because of its poor solubility at a typical urine pH of less than 7, cystine excretion results in recurrent urinary cystine stone formation. A high prevalence of high blood pressure and of chronic kidney disease has been reported in these patients.
Caroline, Prot-Bertoye +7 more
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Cystinuria is the most common monogenic nephrolithiasis disorder. Because of its poor solubility at a typical urine pH of less than 7, cystine excretion results in recurrent urinary cystine stone formation. A high prevalence of high blood pressure and of chronic kidney disease has been reported in these patients.
Caroline, Prot-Bertoye +7 more
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