Literature DB >> 6820438

Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant.

R P Gottlieb, M M Koppel, W L Nyhan, B Bakay, E Nissinen, M Borden, T Page.   

Abstract

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Year:  1982        PMID： 6820438     DOI： 10.1007/bf02179135

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


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  15 in total

1.  [Lesch-Nyhan syndrome without self-mutilation: biochemical and morphological studies on blood cells (author's transl)].

Authors:  W Schneider; E Morgenstern; I Schindera
Journal:  Dtsch Med Wochenschr       Date:  1976-01-30       Impact factor: 0.628

2.  Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.

Authors:  M J Holland; A M DiLorenzo; J Dancis; M E Balis; T F Yü; R P Cox
Journal:  J Clin Invest       Date:  1976-06       Impact factor: 14.808

3.  Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.

Authors:  U Francke; B Bakay; W L Nyhan
Journal:  J Pediatr       Date:  1973-03       Impact factor: 4.406

4.  Detection of radioactive components in polyacrylamide gel disc electropherograms by automated mechanical fractionation.

Authors:  B Bakay
Journal:  Anal Biochem       Date:  1971-04       Impact factor: 3.365

5.  The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  B T Emmerson; L Thompson
Journal:  Q J Med       Date:  1973-04

6.  Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease).

Authors:  C S Rubin; M E Balis; S Piomelli; P H Berman; J Dancis
Journal:  J Lab Clin Med       Date:  1969-11

7.  Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.

Authors:  T F Yü; M E Balis; T A Krenitsky; J Dancis; D N Silvers; G B Elion; A B Gutman
Journal:  Ann Intern Med       Date:  1972-02       Impact factor: 25.391

8.  Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Authors:  J Dancis; L C Yip; R P Cox; S Piomelli; M E Balis
Journal:  J Clin Invest       Date:  1973-08       Impact factor: 14.808

9.  Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.

Authors:  B Bakay; E Nissinen; L Sweetman; U Francke; W L Nyhan
Journal:  Pediatr Res       Date:  1979-12       Impact factor: 3.756

10.  Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

Authors:  I H Fox; I L Dwosh; P J Marchant; S Lacroix; M R Moore; S Omura; V Wyhofsky
Journal:  J Clin Invest       Date:  1975-11       Impact factor: 14.808
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  2 in total

Review 1.  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

Review 2.  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
  2 in total

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