Literature DB >> 27335907

Persistent Leukocyturia Was a Clue to Diagnosis of Cystinuria in a Female Patient.

Yoshifusa Abe1, Shinichi Sakamoto2, Eiji Morimoto3, Yoshitaka Watanabe1, Keiko Nagahara1, Takeshi Mikawa1, Shuichiro Watanabe4, Kazuo Itabashi1.   

Abstract

Entities:  

Year:  2014        PMID： 27335907      PMCID： PMC4804682          DOI： 10.1177/2333794X14551275

Source DB:  PubMed          Journal:  Glob Pediatr Health        ISSN： 2333-794X


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  8 in total

1.  A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter.

Authors:  Y Shigeta; Y Kanai; A Chairoungdua; N Ahmed; S Sakamoto; H Matsuo; D K Kim; M Fujimura; N Anzai; K Mizoguchi; T Ueda; K Akakura; T Ichikawa; H Ito; H Endou
Journal:  Kidney Int       Date:  2006-04       Impact factor: 10.612

2.  Deletion of PREPL, a gene encoding a putative serine oligopeptidase, in patients with hypotonia-cystinuria syndrome.

Authors:  Jaak Jaeken; Kevin Martens; Inge Francois; Francois Eyskens; Claudine Lecointre; Rita Derua; Sandra Meulemans; Jerry W Slootstra; Etienne Waelkens; Francis de Zegher; John W M Creemers; Gert Matthijs
Journal:  Am J Hum Genet       Date:  2005-11-23       Impact factor: 11.025

3.  Clinical and metabolic features of urolithiasis and microlithiasis in children.

Authors:  Harika Alpay; Ahmet Ozen; Ibrahim Gokce; Nese Biyikli
Journal:  Pediatr Nephrol       Date:  2009-07-15       Impact factor: 3.714

4.  Pediatric urolithiasis in Kuwait.

Authors:  A A Al-Eisa; A Al-Hunayyan; R Gupta
Journal:  Int Urol Nephrol       Date:  2002       Impact factor: 2.370

5.  The incidence of cystinuria in Japan.

Authors:  H Ito; M Murakami; T Miyauchi; I Mori; K Yamaguchi; T Usui; J Shimazaki
Journal:  J Urol       Date:  1983-05       Impact factor: 7.450

6.  Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.

Authors:  M A Font; L Feliubadaló; X Estivill; V Nunes; E Golomb; Y Kreiss; E Pras; L Bisceglia; A P d'Adamo; L Zelante; P Gasparini; M T Bassi; A L George ; M Manzoni; M Riboni; A Ballabio; G Borsani; N Reig; E Fernández; A Zorzano; J Bertran; M Palacín
Journal:  Hum Mol Genet       Date:  2001-02-15       Impact factor: 6.150

Review 7.  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

8.  Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Authors:  Luca Dello Strologo; Elon Pras; Claudia Pontesilli; Ercole Beccia; Vittorino Ricci-Barbini; Luisa de Sanctis; Alberto Ponzone; Michele Gallucci; Luigi Bisceglia; Leopoldo Zelante; Maite Jimenez-Vidal; Mariona Font; Antonio Zorzano; Ferran Rousaud; Virginia Nunes; Paolo Gasparini; Manuel Palacín; Gianfranco Rizzoni
Journal:  J Am Soc Nephrol       Date:  2002-10       Impact factor: 10.121
  8 in total

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