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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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Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2010
Cystinuria is an autosomal recessive disorder characterized by impairment of the proximal renal tubules which are unable to reabsorb cystine and dibasic amino acids, leading to the formation of recurrent kidney stones. According to the most recent genetic knowledge, there are two types of cystinuria.
Luca, Dello Strologo +2 more
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Cystinuria is an autosomal recessive disorder characterized by impairment of the proximal renal tubules which are unable to reabsorb cystine and dibasic amino acids, leading to the formation of recurrent kidney stones. According to the most recent genetic knowledge, there are two types of cystinuria.
Luca, Dello Strologo +2 more
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