Literature DB >> 17539912

Isolated cystinuria (OMIM 238200) is not a separate entity but is caused by a mutation in the cystinuria gene SLC7A9.

T Eggermann, M Elbracht, F Haverkamp, C Schmidt, K Zerres.   

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Year:  2007        PMID： 17539912     DOI： 10.1111/j.1399-0004.2007.00797.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 in total

1.  Clinical utility gene card for: Cystinuria.

Authors:  Thomas Eggermann; Klaus Zerres; Virginia Nunes; Mariona Font-Llitjós; Luigi Bisceglia; Anthoula Chatzikyriakidou; Luca dello Strologo; Elon Pras; John Creemers; Manuel Palacin
Journal:  Eur J Hum Genet       Date:  2011-08-24       Impact factor: 4.246

Review 2.  Pathophysiology and treatment of cystinuria.

Authors:  Josep Chillarón; Mariona Font-Llitjós; Joana Fort; Antonio Zorzano; David S Goldfarb; Virginia Nunes; Manuel Palacín
Journal:  Nat Rev Nephrol       Date:  2010-06-01       Impact factor: 28.314

Review 3.  Heteromeric Solute Carriers: Function, Structure, Pathology and Pharmacology.

Authors:  Stephen J Fairweather; Nishank Shah; Stefan Brӧer
Journal:  Adv Exp Med Biol       Date:  2021       Impact factor: 2.622

Review 4.  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

5.  Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Authors:  Malak Alghamdi; Khalid A Alhasan; Areej Taha Elawad; Suha Salim; Marwa Abdelhakim; Marwan Nashabat; Rupesh Raina; Jameela Kari; Majid Alfadhel
Journal:  Front Pediatr       Date:  2020-11-11       Impact factor: 3.418
  5 in total

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