Literature DB >> 5904553

Cystinuria: biochemical evidence for three genetically distinct diseases.

L E Rosenberg, S Downing, J L Durant, S Segal.   

Abstract

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Year:  1966        PMID： 5904553      PMCID： PMC292706          DOI： 10.1172/JCI105351

Source DB:  PubMed          Journal:  J Clin Invest        ISSN： 0021-9738            Impact factor:   14.808


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  10 in total

1.  DEFECTIVE UPTAKE OF BASIC AMINO ACIDS AND L-CYSTINE BY INTESTINAL MUCOSA OF PATIENTS WITH CYSTINURIA.

Authors:  C F MCCARTHY; J L BORLAND; H J LYNCH; E E OWEN; M P TYOR
Journal:  J Clin Invest       Date:  1964-08       Impact factor: 14.808

2.  EVIDENCE AGAINST A SINGLE RENAL TRANSPORT DEFECT IN CYSTINURIA.

Authors:  M FOX; S THIER; L ROSENBERG; W KISER; S SEGAL
Journal:  N Engl J Med       Date:  1964-03-12       Impact factor: 91.245

3.  CYSTINURIA: DEFECTIVE INTESTINAL TRANSPORT OF DIBASIC AMINO ACIDS AND CYSTINE.

Authors:  S O THIER; S SEGAL; M FOX; A BLAIR; L E ROSENBERG
Journal:  J Clin Invest       Date:  1965-03       Impact factor: 14.808

4.  The pattern of amino-acid excretion in cystinuria.

Authors:  H HARRIS; U MITTWOCH; E B ROBSON; F L WARREN
Journal:  Ann Hum Genet       Date:  1955-02       Impact factor: 1.670

5.  Studies of the kinetics of amino acid transport, incorporation into portein and oxidation in kidney-cortex slices.

Authors:  L E ROSENBERG; M BERMAN; S SEGAL
Journal:  Biochim Biophys Acta       Date:  1963-06-04

6.  Phenotypes and genotypes in cystinuria.

Authors:  H HARRIS; U MITTWOCH; E B ROBSON; F L WARREN
Journal:  Ann Hum Genet       Date:  1955-08       Impact factor: 1.670

7.  A microcolorimetric determination of creatine in urine by the Jaffe reaction.

Authors:  H H TAUSSKY
Journal:  J Biol Chem       Date:  1954-06       Impact factor: 5.157

8.  THE CONCENTRATIONS OF CYSTEINE AND CYSTINE IN HUMAN BLOOD PLASMA.

Authors:  M P Brigham; W H Stein; S Moore
Journal:  J Clin Invest       Date:  1960-11       Impact factor: 14.808

9.  The intestinal absorption defect in cystinuria.

Authors:  M D Milne; A M Asatoor; K D Edwards; L W Loughridge
Journal:  Gut       Date:  1961-12       Impact factor: 23.059

10.  CYSTINURIA: IN VITRO DEMONSTRATION OF AN INTESTINAL TRANSPORT DEFECT.

Authors:  S THIER; M FOX; S SEGAL; L E ROSENBERG
Journal:  Science       Date:  1964-01-31       Impact factor: 47.728
  10 in total
  44 in total

1.  Cystinuric heterozygotes and cystine-loading.

Authors:  R Minami; K Olek; P Wardenbach
Journal:  Humangenetik       Date:  1975-09-10

2.  Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds.

Authors:  Erik Fjellstedt; Lotta Harnevik; Jan-Olof Jeppsson; Hans-Göran Tiselius; Peter Söderkvist; Torsten Denneberg
Journal:  Urol Res       Date:  2003-10-25

3.  Expression of heteromeric amino acid transporters along the murine intestine.

Authors:  Mital H Dave; Nicole Schulz; Marija Zecevic; Carsten A Wagner; Francois Verrey
Journal:  J Physiol       Date:  2004-05-21       Impact factor: 5.182

4.  Balanced translocation (14;20) in a mentally handicapped child with cystinuria.

Authors:  M Sharland; M Jones; M Bain; R Chalmers; J Hammond; M A Patton
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

5.  Molecular analysis of cystinuria in Libyan Jews: exclusion of the SLC3A1 gene and mapping of a new locus on 19q.

Authors:  R Wartenfeld; E Golomb; G Katz; S J Bale; B Goldman; M Pras; D L Kastner; E Pras
Journal:  Am J Hum Genet       Date:  1997-03       Impact factor: 11.025

6.  The molecular basis of cystinuria: the role of the rBAT gene.

Authors:  M Palacín; C Mora; J Chillarón; M J Calonge; R Estévez; D Torrents; X Testar; A Zorzano; V Nunes; J Purroy; X Estivill; P Gasparini; L Bisceglia; L Zelante
Journal:  Amino Acids       Date:  1996-06       Impact factor: 3.520

7.  The role of phosphate in the action of vitamin D on the intestine.

Authors:  S J Birge; R Miller
Journal:  J Clin Invest       Date:  1977-11       Impact factor: 14.808

8.  Clinical Outcomes for Cystinuria Patients with Unilateral Versus Bilateral Cystine Stone Disease.

Authors:  Manint Usawachintachit; Benjamin Sherer; Matthew Hudnall; David T Tzou; Kazumi Taguchi; Ryan S Hsi; Marshall Stoller; Thomas Chi
Journal:  J Endourol       Date:  2018-01-03       Impact factor: 2.942

9.  Homozygous cystinuria and the oculo-cerebro-renal dystrophy of Lowe in same family.

Authors:  R R Bailey; R W Carrell; F T Shannon
Journal:  Arch Dis Child       Date:  1976-07       Impact factor: 3.791

10.  Molecular characterization of cystinuria in south-eastern European countries.

Authors:  Katerina Popovska-Jankovic; Velibor Tasic; Radovan Bogdanovic; Predrag Miljkovic; Emilija Golubovic; Alper Soylu; Marjan Saraga; Snezana Pavicevic; Esra Baskin; Ipek Akil; Alojz Gregoric; Marusia Lilova; Rezan Topaloglu; Emilija Sukarova Stefanovska; Dijana Plaseska-Karanfilska
Journal:  Urolithiasis       Date:  2012-12-27       Impact factor: 3.436
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