Literature DB >> 1434518

Lesch-Nyhan syndrome in a girl.

P van Bogaert1, I Ceballos, I Desguerre, L Telvi, P Kamoun, G Ponsot.   

Abstract

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Year:  1992        PMID： 1434518     DOI： 10.1007/bf01800022

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  2 in total

1.  Effect of excision repair by diploid human fibroblasts on the kinds and locations of mutations induced by (+/-)-7 beta,8 alpha-dihydroxy-9 alpha,10 alpha-epoxy-7,8,9,10- tetrahydrobenzo[a]pyrene in the coding region of the HPRT gene.

Authors:  R H Chen; V M Maher; J J McCormick
Journal:  Proc Natl Acad Sci U S A       Date:  1990-11       Impact factor: 11.205

2.  Molecular analysis of a female Lesch-Nyhan patient.

Authors:  N Ogasawara; J T Stout; H Goto; S Sonta; A Matsumoto; C T Caskey
Journal:  J Clin Invest       Date:  1989-09       Impact factor: 14.808
  2 in total
  7 in total

1.  Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.

Authors:  David J Schretlen; Mark Varvaris; Tiffany E Ho; Tracy D Vannorsdall; Barry Gordon; James C Harris; H A Jinnah
Journal:  Lancet Neurol       Date:  2013-12       Impact factor: 44.182

2.  Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.

Authors:  Hang-Korng Ea; Thomas Bardin; H A Jinnah; Bernard Aral; Frédéric Lioté; Irène Ceballos-Picot
Journal:  Arthritis Rheum       Date:  2009-07

Review 3.  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

4.  Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

Authors:  Irene Ceballos-Picot; Lionel Mockel; Marie-Claude Potier; Luce Dauphinot; Thomas L Shirley; Raoul Torero-Ibad; Julia Fuchs; H A Jinnah
Journal:  Hum Mol Genet       Date:  2009-04-02       Impact factor: 6.150

Review 5.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501

6.  An unanticipated difficult airway in Lesch-Nyhan syndrome.

Authors:  Rashmi Salhotra; Chhavi Sharma; Asha Tyagi; Surendra Kumar; Ak Sethi; Shuchi Bhatt
Journal:  J Anaesthesiol Clin Pharmacol       Date:  2012-04

Review 7.  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
  7 in total

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