Literature DB >> 4465285

High frequency of cystinuria among Jews of Libyan origin.

A Weinberger, O Sperling, M Rabinovitz, S Brosh, A Adam, A De Vries.   

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Year:  1974        PMID： 4465285     DOI： 10.1159/000152696

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


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  10 in total

1.  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

2.  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

3.  Evidence suggesting that the minimal functional unit of a renal cystine transporter is a heterodimer and its implications in cystinuria.

Authors:  S S Tate
Journal:  Amino Acids       Date:  1996-06       Impact factor: 3.520

4.  Genetic markers in Libyan Jews.

Authors:  B Bonné-Tamir; S Ashbel; J Modai
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

5.  Pilot screening programme for cystinuria in the Valencian community.

Authors:  M L Cabello-Tomás; A M García-Gómez; M L Guillén-Domínguez
Journal:  Eur J Epidemiol       Date:  1999-08       Impact factor: 8.082

6.  Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.

Authors:  E Kerem; Y M Kalman; Y Yahav; T Shoshani; D Abeliovich; A Szeinberg; J Rivlin; H Blau; A Tal; L Ben-Tur
Journal:  Hum Genet       Date:  1995-08       Impact factor: 4.132

7.  Cystinuria: the South Indian experience.

Authors:  Y M Fazil Marickar
Journal:  Urol Res       Date:  2009-09-25

8.  Evidence for linkage of the gene causing familial Mediterranean fever to chromosome 17q in non-Ashkenazi Jewish families: second locus or type I error?

Authors:  I Aksentijevich; L Gruberg; E Pras; J E Balow; M Kovo; E Gazit; M Dean; M Pras; D L Kastner
Journal:  Hum Genet       Date:  1993-07       Impact factor: 4.132

Review 9.  Cystinuria: an inborn cause of urolithiasis.

Authors:  Thomas Eggermann; Andreas Venghaus; Klaus Zerres
Journal:  Orphanet J Rare Dis       Date:  2012-04-05       Impact factor: 4.123

10.  Genetic and Clinical Analyses of 13 Chinese Families With Cystine Urolithiasis and Identification of 15 Novel Pathogenic Variants in SLC3A1 and SLC7A9.

Authors:  Chuangye Li; Yongjia Yang; Yu Zheng; Fang Shen; Li Liu; Yanfang Li; Liping Li; Yaowang Zhao
Journal:  Front Genet       Date:  2020-02-18       Impact factor: 4.599
  10 in total

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