Literature DB >> 23321622

Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013.

Rosa J Torres1, Juan G Puig, Irène Ceballos-Picot.   

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Year:  2013        PMID： 23321622      PMCID： PMC3778342          DOI： 10.1038/ejhg.2012.304

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  27 in total

1.  The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.

Authors:  J G Puig; R J Torres; F A Mateos; T H Ramos; J M Arcas; A S Buño; P O'Neill
Journal:  Medicine (Baltimore)       Date:  2001-03       Impact factor: 1.889

2.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families.

Authors:  R J Torres; F A Mateos; J Molano; B S Gathoff; J P O'Neill; R M Gundel; L Trombley; J G Puig
Journal:  Hum Mutat       Date:  2000-04       Impact factor: 4.878

3.  A specific enzyme defect in gout associated with overproduction of uric acid.

Authors:  W N Kelley; F M Rosenbloom; J F Henderson; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1967-06       Impact factor: 11.205

Review 4.  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

5.  Kelley-Seegmiller syndrome due to a new variant of the hypoxanthine-guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille).

Authors:  B Dussol; I Ceballos-Picot; B Aral; V Castera; N Philip; Y Berland
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982

6.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728

7.  Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes.

Authors:  J Patrick O'Neill
Journal:  Genet Test       Date:  2004

8.  Carrier and prenatal diagnosis of Lesch-Nyhan disease due to a defect in HPRT gene expression regulation.

Authors:  Rosa J Torres; Marta G Garcia; Juan G Puig
Journal:  Gene       Date:  2012-10-07       Impact factor: 3.688

9.  A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.

Authors:  J M Wilson; J T Stout; T D Palella; B L Davidson; W N Kelley; C T Caskey
Journal:  J Clin Invest       Date:  1986-01       Impact factor: 14.808

10.  Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity.

Authors:  T Page; B Bakay; E Nissinen; W L Nyhan
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
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  4 in total

1.  Transcriptomic approach to Lesch-Nyhan disease.

Authors:  Luce Dauphinot; Lionel Mockel; Julie Cahu; H A Jinnah; Morgan Ledroit; Marie-Claude Potier; Irène Ceballos-Picot
Journal:  Nucleosides Nucleotides Nucleic Acids       Date:  2014       Impact factor: 1.381

Review 2.  Determining the frequency of sporadic cases of rare X-linked disorders.

Authors:  Alan Edmund Stark
Journal:  Ann Transl Med       Date:  2016-02

3.  Urate-lowering therapy for gout and asymptomatic hyperuricemia in the pediatric population: a cross-sectional study of a Japanese health insurance database.

Authors:  Masataka Honda; Hideki Horiuchi; Tomoko Torii; Akihiro Nakajima; Takeshi Iijima; Hiroshi Murano; Hisashi Yamanaka; Shuichi Ito
Journal:  BMC Pediatr       Date:  2021-12-18       Impact factor: 2.125

4.  Prevalence of gout and asymptomatic hyperuricemia in the pediatric population: a cross-sectional study of a Japanese health insurance database.

Authors:  Shuichi Ito; Tomoko Torii; Akihiro Nakajima; Takeshi Iijima; Hiroshi Murano; Hideki Horiuchi; Hisashi Yamanaka; Masataka Honda
Journal:  BMC Pediatr       Date:  2020-10-15       Impact factor: 2.125
  4 in total

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