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The genetics of cystinuria - an update and critical reevaluation.
Current opinion in nephrology and hypertension, 2023PURPOSE OF REVIEW We aimed to critically evaluate how the establishment of genotype-based treatment for cystinuria has been hampered due to the large number of variants of unknown significance (VUS) within the disease causing genes as well as challenges ...
Clàudia Abad Baucells +2 more
semanticscholar +1 more source
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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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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Journal of the American Veterinary Medical Association, 1991
A 10-month-old male Siamese cat with dysuria was determined to have cystine crystalluria. Many small calculi composed entirely of cystine were found in the urinary bladder. Measurement of serum and urine amino acids and calculation of fractional reabsorption of amino acids indicated reabsorption defects for cystine, ornithine, lysine, and arginine ...
S P, DiBartola, D J, Chew, M L, Horton
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A 10-month-old male Siamese cat with dysuria was determined to have cystine crystalluria. Many small calculi composed entirely of cystine were found in the urinary bladder. Measurement of serum and urine amino acids and calculation of fractional reabsorption of amino acids indicated reabsorption defects for cystine, ornithine, lysine, and arginine ...
S P, DiBartola, D J, Chew, M L, Horton
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Cystinuria and Dermatomyositis
Clinical Pediatrics, 1970A girl is described who had both cystinuria and dermatomyositis. This associa tion, not previously recorded, may or may not be pathogenetically related.
N P, Fawcett, W L, Nyhan
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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
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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
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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 ...
openaire +2 more sources