Literature DB >> 20517618

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

Serena Gasperini, Stefano Stagi, Ugo Gasperini, Renzo Guerrini, Giancarlo la Marca, Maria Alice Donati.   

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Year:  2010        PMID： 20517618     DOI： 10.1007/s00467-010-1557-3

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


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  8 in total

1.  Urinary uric acid levels and discoloration of diapers in healthy neonates.

Authors:  Serhan Küpeli; Murat Yurdakök; Gamze Kilinc; Emel Bilgetekin
Journal:  Pediatr Nephrol       Date:  2005-06-08       Impact factor: 3.714

2.  An infant with orange-colored urine.

Authors:  Serwet Demirdas; Cornelis H Schröder
Journal:  Pediatr Nephrol       Date:  2009-10-21       Impact factor: 3.714

Review 3.  The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases.

Authors:  H A Jinnah; L De Gregorio; J C Harris; W L Nyhan; J P O'Neill
Journal:  Mutat Res       Date:  2000-10       Impact factor: 2.433

Review 4.  Delineation of the motor disorder of Lesch-Nyhan disease.

Authors:  H A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Larovere; Irene Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth L Robey; Gabor Barabas; Bastiaan R Bloem; William Nyhan; Raquel De Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Journal:  Brain       Date:  2006-03-20       Impact factor: 13.501

5.  Lesch-Nyhan Syndrome: report on two brothers.

Authors:  M T Yang; S C Mak; C S Chi; H Y Lin; Y P Lii; K H Wu; W J Shian
Journal:  Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi       Date:  1994 Nov-Dec

6.  Normal HPRT coding region in complete and partial HPRT deficiency.

Authors:  Marta G García; Rosa J Torres; Carmen Prior; Juan G Puig
Journal:  Mol Genet Metab       Date:  2008-03-07       Impact factor: 4.797

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

Review 8.  Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome.

Authors:  Rosa J Torres; Juan G Puig
Journal:  Orphanet J Rare Dis       Date:  2007-12-08       Impact factor: 4.123
  8 in total
  5 in total

1.  An unusual case of renal failure: Answers.

Authors:  Alison Ma; Rukshana Shroff; Stephen D Marks
Journal:  Pediatr Nephrol       Date:  2016-01-11       Impact factor: 3.714

2.  Orange-colored diapers in infants from families with gout.

Authors:  Kamal F Akl
Journal:  Pediatr Nephrol       Date:  2011-01-30       Impact factor: 3.714

Review 3.  Urine bag as a modern day matula.

Authors:  Stalin Viswanathan
Journal:  ISRN Nephrol       Date:  2013-05-23

4.  Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.

Authors:  Cahyani Gita Ambarsari; Daffodilone Cahyadi; Lenny Sari; Oryza Satria; Felly Sahli; Thyrza Laudamy Darmadi; Agustina Kadaristiana
Journal:  Ren Fail       Date:  2020-11       Impact factor: 2.606

5.  Congenital anomalies-associated Riga-Fede disease as an early manifestation of Lesch-Nyhan syndrome: rare entities in the same pediatric patient-a case report.

Authors:  Aliaa Abdelmoniem Bedeir Eita
Journal:  BMC Oral Health       Date:  2022-02-02       Impact factor: 2.757
  5 in total

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