Literature DB >> 4726089

Heterogeneity in the biochemical characteristics of red blood cell hypoxanthine-guanine phosphoribosyl transferase from two unrelated patients with the Lesch-Nyhan syndrome.

B J Richardson, D L Ryckman, L M Komarnicki, J L Hamerton.   

Abstract

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Year:  1973        PMID： 4726089     DOI： 10.1007/BF00487450

Source DB:  PubMed          Journal:  Biochem Genet        ISSN： 0006-2928            Impact factor:   1.890


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  7 in total

1.  A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.

Authors:  M LESCH; W L NYHAN
Journal:  Am J Med       Date:  1964-04       Impact factor: 4.965

2.  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

3.  Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome.

Authors:  B Bakay; W L Nyhan
Journal:  Biochem Genet       Date:  1972-04       Impact factor: 1.890

4.  Human hypoxanthine phosphoribosyltransferase. I. Purification, properties, and specificity.

Authors:  T A Krenitsky; R Papaioannou; G B Elion
Journal:  J Biol Chem       Date:  1969-03-10       Impact factor: 5.157

5.  Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.

Authors:  W N Kelley; J C Meade
Journal:  J Biol Chem       Date:  1971-05-10       Impact factor: 5.157

6.  Purification of IMP:pyrophosphate phosphoribosyltransferases, catalytically incompetent enzymes in Lesch-Nyhan disease.

Authors:  C S Rubin; J Dancis; L C Yip; R C Nowinski; M E Balis
Journal:  Proc Natl Acad Sci U S A       Date:  1971-07       Impact factor: 11.205

7.  Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.

Authors:  J A McDonald; W N Kelley
Journal:  Science       Date:  1971-02-19       Impact factor: 47.728
  7 in total
  3 in total

Review 1.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors:  C H de Bruyn
Journal:  Hum Genet       Date:  1976-02-29       Impact factor: 4.132

2.  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

Review 3.  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
  3 in total

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