Literature DB >> 1444854

[Cystinosis in an adult].

N A Kir'ianov, E L Bazhenov, E V Stetsenko.   

Abstract

The paper reports a case of cystinosis with the involvement of kidneys, myocardium and liver in a female of 43. Late development of kidney failure might be due to a partial deficiency of the enzyme responsible for a cystine transport in the cell.

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Mesh:

Year:  1992        PMID: 1444854

Source DB:  PubMed          Journal:  Arkh Patol        ISSN: 0004-1955


  2 in total

Review 1.  The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives.

Authors:  Stephanie Cherqui; Pierre J Courtoy
Journal:  Nat Rev Nephrol       Date:  2016-12-19       Impact factor: 28.314

2.  Nephropathic cystinosis associated with cardiomyopathy: a 27-year clinical follow-up.

Authors:  Mehul P Dixit; Ira Greifer
Journal:  BMC Nephrol       Date:  2002-11-09       Impact factor: 2.388

  2 in total

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