Literature DB >> 5350202

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

C S Rubin, M E Balis, S Piomelli, P H Berman, J Dancis.   

Abstract

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Year:  1969        PMID： 5350202

Source DB:  PubMed          Journal:  J Lab Clin Med        ISSN： 0022-2143


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  16 in total

1.  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

2.  Letter: Mouse fibroblasts A9 are deficient in HPRT and APRT.

Authors:  R P Cos; M R Drauss; M E Balis; J Dancis
Journal:  Am J Hum Genet       Date:  1974-03       Impact factor: 11.025

3.  Metabolism of purines in cultured normal and HPRT-deficient human fibroblasts.

Authors:  K Itiaba; M Banfalvi; J C Crawhall
Journal:  Biochem Genet       Date:  1973-02       Impact factor: 1.890

4.  The Lesch-Nyhan syndrome. Metabolic studies during administration of adenine.

Authors:  A Demus; W Kaiser; J Schaub
Journal:  Z Kinderheilkd       Date:  1973-04-04

5.  Cell population density and phenotypic expression of tissue culture fibroblasts from heterozygotes of Lesch-Nyhan's disease (inosinate pyrophosphorylase deficiency).

Authors:  J Dancis; R P Cox; P H Berman; V Jansen; M E Balis
Journal:  Biochem Genet       Date:  1969-12       Impact factor: 1.890

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

Authors:  R P Gottlieb; M M Koppel; W L Nyhan; B Bakay; E Nissinen; M Borden; T Page
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

7.  Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.

Authors:  M A Becker
Journal:  J Clin Invest       Date:  1976-02       Impact factor: 14.808

8.  Studies on the coordinate activity and liability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration.

Authors:  R M Fox; M H Wood; W J O'Sullivan
Journal:  J Clin Invest       Date:  1971-05       Impact factor: 14.808

9.  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

10.  Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.

Authors:  W J Arnold; J C Meade; W N Kelley
Journal:  J Clin Invest       Date:  1972-07       Impact factor: 14.808
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