Results 131 to 140 of about 2,812 (171)
Some of the next articles are maybe not open access.
Pediatric Nephrology, 1999
Cystine urolithiasis is the only clinical expression of cystinuria, an autosomal recessive genetic defect of the transepithelial transport of cystine and other dibasic amino acids in the kidney. Stones form due to the increased excretion of cystine, which is poorly soluble at normal urine pH.
D, Joly +5 more
openaire +2 more sources
Cystine urolithiasis is the only clinical expression of cystinuria, an autosomal recessive genetic defect of the transepithelial transport of cystine and other dibasic amino acids in the kidney. Stones form due to the increased excretion of cystine, which is poorly soluble at normal urine pH.
D, Joly +5 more
openaire +2 more sources
Clinical Science, 1974
1. By using ion-exchange columns coupled to a sensitive automated Sakaguchi reaction, in addition to the normal ninhydrin reaction for amino acids, homoarginine, a guanidino homologue of arginine, was found in the plasma and urine of both normal and cystinuric individuals. 2. In all seven cystinuric subjects studied, urinary excretion of
B D, Cox, J S, Cameron
openaire +2 more sources
1. By using ion-exchange columns coupled to a sensitive automated Sakaguchi reaction, in addition to the normal ninhydrin reaction for amino acids, homoarginine, a guanidino homologue of arginine, was found in the plasma and urine of both normal and cystinuric individuals. 2. In all seven cystinuric subjects studied, urinary excretion of
B D, Cox, J S, Cameron
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
Urologic Clinics of North America, 2007
Cystinuria is a monogenic disorder in which there is a transepithelial transport defect of di-basic amino acids, including cystine, ornithine, lysine, and arginine (COLA). This results in diminished reabsorption of these amino acids in both the intestine and renal proximal tubule.
Alexandra, Rogers +3 more
openaire +2 more sources
Cystinuria is a monogenic disorder in which there is a transepithelial transport defect of di-basic amino acids, including cystine, ornithine, lysine, and arginine (COLA). This results in diminished reabsorption of these amino acids in both the intestine and renal proximal tubule.
Alexandra, Rogers +3 more
openaire +2 more sources
1980
Cystinuria is an inherited disorder of the tubular and jejunal mucosa transport of four amino acids:cys, lys, arg and ornithine (1–2). The association of cystinuria with other chronic diseases or metabolic disorders is not common. Therefore it seemed us usefull to present the association hyperuricemia and cystinuria in 7 out of 55 cystinic lithiasis ...
F, Linari +6 more
openaire +2 more sources
Cystinuria is an inherited disorder of the tubular and jejunal mucosa transport of four amino acids:cys, lys, arg and ornithine (1–2). The association of cystinuria with other chronic diseases or metabolic disorders is not common. Therefore it seemed us usefull to present the association hyperuricemia and cystinuria in 7 out of 55 cystinic lithiasis ...
F, Linari +6 more
openaire +2 more sources
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
openaire +1 more source
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
openaire +1 more source