Literature DB >> 14767763

End-stage renal failure as manifestation of adolescent cystinosis.

Michaela Marx1, Christian Plank, Bettina Zimmermann, Maike Graupner, Michael Kiehntopf, Jörg Dötsch.   

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Year:  2004        PMID： 14767763     DOI： 10.1007/s00431-003-1395-4

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  6 in total

Review 1.  CTNS mutations in patients with cystinosis.

Authors:  Y Anikster; V Shotelersuk; W A Gahl
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

2.  Renal failure in a sibship with late-onset cystinosis.

Authors:  C B Langman; E S Moore; J G Thoene; J A Schneider
Journal:  J Pediatr       Date:  1985-11       Impact factor: 4.406

3.  Adolescent cystinosis: renal function and morphology.

Authors:  F Manz; E Harms; P Lutz; R Waldherr; K Schärer
Journal:  Eur J Pediatr       Date:  1982-07       Impact factor: 3.183

4.  Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.

Authors:  M Attard; G Jean; L Forestier; S Cherqui; W van't Hoff; M Broyer; C Antignac; M Town
Journal:  Hum Mol Genet       Date:  1999-12       Impact factor: 6.150

5.  [Longitudinal physical development of healthy children 0 to 18 years of age. Body length/height, body weight and growth velocity].

Authors:  L Reinken; G van Oost
Journal:  Klin Padiatr       Date:  1992 May-Jun       Impact factor: 1.349

6.  CTNS mutations in an American-based population of cystinosis patients.

Authors:  V Shotelersuk; D Larson; Y Anikster; G McDowell; R Lemons; I Bernardini; J Guo; J Thoene; W A Gahl
Journal:  Am J Hum Genet       Date:  1998-11       Impact factor: 11.025
  6 in total
  2 in total

1.  Natural history of adolescent-onset cystinosis.

Authors:  Julian P Midgley; Reyhan El-Kares; François Mathieu; Paul Goodyer
Journal:  Pediatr Nephrol       Date:  2011-05-08       Impact factor: 3.714

2.  Late-onset nephropathic cystinosis: clinical presentation, outcome, and genotyping.

Authors:  Aude Servais; Vincent Morinière; Jean-Pierre Grünfeld; Laure-Hélène Noël; Jean-Michel Goujon; Bernadette Chadefaux-Vekemans; Corinne Antignac
Journal:  Clin J Am Soc Nephrol       Date:  2008-01       Impact factor: 8.237
  2 in total

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