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Cystinuria

Known as: High urine cystine levels, Cystinurias, CSNU1, FORMERLY 
An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. This form of aminoaciduria… 
National Institutes of Health

Related topics

Related topics

28 relations

Broader (3)

Amino Acid Metabolism, Inborn ErrorsRenal Tubular Transport, Inborn ErrorsUrolithiasis
Autosomal dominant inheritanceAutosomal recessive inheritanceB(0,+)-Type Amino Acid Transporter 1In Blood

Narrower (1)

Hypotonia-Cystinuria Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2003
Highly Cited
2003
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Cystinuria is a common recessive disorder of renal reabsorption of cystine and dibasic amino acids that results in urolithiasis… 
Highly Cited
2001
Highly Cited
2001
Infrared to millimetre photometry of ultra-luminous ir galaxies: new evidence favouring a 3-stage dust model
Infrared to millimetre spectral energy distributions (SEDs) have been obtained for 41 bright ultra- luminous infrared galaxies… 
Highly Cited
1997
Highly Cited
1997
Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.
Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes (I, II, and III) have been described. An… 
Highly Cited
1991
Highly Cited
1991
Capillary electrophoresis for diagnosis and studies of human disease, particularly metabolic disorders.
Highly Cited
1980
Highly Cited
1980
Transport interactions of cystine and dibasic amino acids in isolated rat renal tubules.
Highly Cited
1965
Highly Cited
1965
Nitrogen Fixation by Members of the Tribe Klebsielleae
Mahl, M. C. (University of Wisconsin, Madison), P. W. Wilson, M. A. Fife, and W. H. Ewing. Nitrogen fixation by members of the… 
Highly Cited
1965
Highly Cited
1965
Intestinal absorption and renal extraction of cystine and cysteine in cystinuria.
A NUMBER of in vivo1 2 3 and in vitro4 5 6 studies in cystinuric patients have shown the presence of defects in renal and… 
Highly Cited
1964
Highly Cited
1964
EVIDENCE AGAINST A SINGLE RENAL TRANSPORT DEFECT IN CYSTINURIA.
SINCE 1810, when Wollaston1 first described a urinary calculus composed entirely of cystine, the pathogenesis of cystinuria has… 
Highly Cited
1955
Highly Cited
1955
PHENOTYPES AND GENOTYPES IN CYSTINURIA
Quantitative data are presented on the cystine, lysine and arginine excretion in patients with cystine stone formation and in… 
Highly Cited
1955
Highly Cited
1955
THE PATTERN OF AMINO‐ACID EXCRETION IN CYSTINURIA
1. Cystine, lysine and arginine determinations have been carried out on urines from twenty‐eight cystinuric patients and 121 of… 
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