Literature DB >> 26754040

An unusual case of renal failure: Answers.

Alison Ma1, Rukshana Shroff2, Stephen D Marks2.   

Abstract

Entities:  

Keywords:  Acute kidney injury; HPRT enzyme deficiency; Hyperuricaemia; Lesch–Nyhan syndrome

Mesh：

Year:  2016        PMID： 26754040     DOI： 10.1007/s00467-015-3300-6

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


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  7 in total

1.  Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant.

Authors:  Serena Gasperini; Stefano Stagi; Ugo Gasperini; Renzo Guerrini; Giancarlo la Marca; Maria Alice Donati
Journal:  Pediatr Nephrol       Date:  2010-06-02       Impact factor: 3.714

2.  Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome.

Authors:  Przemysław Sikora; Monika Pijanowska; Marek Majewski; Beata Bieniaś; Halina Borzecka; Małgorzata Zajczkowska
Journal:  Pediatr Nephrol       Date:  2006-05-24       Impact factor: 3.714

3.  Partial hypoxanthine-guanine phosphoribosyltransferase deficiency presenting as acute renal failure.

Authors:  Sarah Cherian; Charles H Crompton
Journal:  Pediatr Nephrol       Date:  2005-10-21       Impact factor: 3.714

Review 4.  Attenuated variants of Lesch-Nyhan disease.

Authors:  H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal:  Brain       Date:  2010-02-22       Impact factor: 13.501

5.  Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism.

Authors:  E A Jenkins; R J Hallett; R G Hull
Journal:  Br J Rheumatol       Date:  1994-04

6.  Lesch-Nyhan syndrome presenting with acute renal failure in a 3-day-old newborn.

Authors:  Ivana Pela; Maria Alice Donati; Elena Procopio; Patrizio Fiorini
Journal:  Pediatr Nephrol       Date:  2007-08-16       Impact factor: 3.714

7.  Lesch-Nyhan disease: from mechanism to model and back again.

Authors:  H A Jinnah
Journal:  Dis Model Mech       Date:  2009 Mar-Apr       Impact factor: 5.758
  7 in total

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