Results 81 to 90 of about 3,609 (206)
Renal polyamine excretion, tubular amino acid reabsorption and molecular genetics in cystinuria
, 2000 Cystinuria is an autosomal recessive disorder of the tubular and intestinal resorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis.
Vester, U. +10 more
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Extremely rapid stone formation in cystinuria: look after dietary supplements!
, 2021 Cystinuria is an autosomal recessive disease characterized by recurrent nephrolithiasis. The prevention of new stones is based on diluting and alkalinizing urine, as well as a low salt and moderate protein intake. The avoidance of food rich in methionine
Jadoul, Michel +3 more
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Relació estructura-funció en la familia de transportadors d'aminoàcids heteromultimèrics identificació d'una nova farnjlia de transportadors lisosomals [PDF]
, 2000 [cat] ANTECEDENTS El coneixement de Ies diferents activitats de transport d'aminoàcids prové de l'anàlisi del transport d'aquests en cèl.lules o vesícules de membrana provinents del teixit que es vol analitzar.
Estévez Povedano, Raúl
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Cystine nephrolithiasis: contemporary approaches to patient management
Вестник урологииIntroduction. Cystinuria is a rare genetic disorder characterised by a markedly elevated concentration of cystine in the urine. Due to the low solubility of cystine in urine, patients with cystinuria face a lifelong increased risk of urinary stone ...
V. A. Gelig +4 more
doaj +1 more source
Metabolic consequences of cystinuria
BMC Nephrology, 2019 Background Cystinuria is an inherited disorder of renal amino acid transport that causes recurrent nephrolithiasis and significant morbidity in humans. It has an incidence of 1 in 7000 worldwide making it one of the most common genetic disorders in man ...
Lauren E. Woodard +9 more
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Molecular genetic studies on cystinuria [Elektronisk resurs]
, 2007 Cystinuria is defined as an inherited disorder characterized by increased urinary excretion of cystine and the dibasic amino acids arginine, lysine and ornithine.
Larsson, Catharina, +2 more
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, 1997 Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. Cystinuria is a common inherited aminoaciduria that leads to recurrent cystine nephrolithiasis.
Phillips, John A. +5 more
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, 1996 Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in Type I patients. Cystinuria, a hereditary disorder of cystine and dibasic amino acid reabsorption, has been classified into three subtypes on the basis of ...
Saadi, Irfan +4 more
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Digenic inheritance in cystinuria mouse model
Cystinuria is an aminoaciduria caused by mutations in the genes that encode the two subunits of the amino acid transport system b0,+, responsible for the renal reabsorption of cystine and dibasic amino acids. The clinical symptoms of cystinuria relate to
Salido, Eduardo +7 more
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