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Genetic Testing: practical dos and don'ts for cats. [PDF]
J Feline Med SurgLyons LA.
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Metabolic evaluation and disease characteristics of urolithiasis in children from 2020 to 2024: a retrospective single-center study at the national children's medical center. [PDF]
BMC PediatrHu L, He K, Jin L, Yan X.
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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.
Martin 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.
Martin C. Gregory, M. A. Mansell
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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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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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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.
Philippe Rieu +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.
Philippe Rieu +5 more
openaire +2 more sources