Literature DB >> 5009592

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

T F Yü, M E Balis, T A Krenitsky, J Dancis, D N Silvers, G B Elion, A B Gutman.   

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Year:  1972        PMID： 5009592     DOI： 10.7326/0003-4819-76-2-255

Source DB:  PubMed          Journal:  Ann Intern Med        ISSN： 0003-4819            Impact factor:   25.391


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  18 in total

1.  Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.

Authors:  I H Fox; P J Marchant; S LaCroix
Journal:  Biochem Genet       Date:  1976-08       Impact factor: 1.890

2.  Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors:  P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal:  Hum Genet       Date:  1977-06-30       Impact factor: 4.132

3.  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

4.  Simplified methods for the measurement and electrophoretic demonstration of hypoxanthine-guanine phosphoribosyl transferase. Evidence for dimeric enzyme structure in various mammals.

Authors:  H H Ropers
Journal:  Humangenetik       Date:  1972

5.  [Normal activity of hypoxanthine-guanine-phosphoribosyl transferase in adults with primary gout].

Authors:  H H Ropers; D P Mertz
Journal:  Klin Wochenschr       Date:  1973-03-15

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

Review 7.  Clinical and biochemical aspects of uric acid overproduction.

Authors:  J García Puig; F A Mateos
Journal:  Pharm World Sci       Date:  1994-04-15

8.  Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines.

Authors:  J E Lever; G Nuki; J E Seegmiller
Journal:  Proc Natl Acad Sci U S A       Date:  1974-07       Impact factor: 11.205

Review 9.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

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

10.  Molecular and tissue-specific heterogeneity in HPRT deficiency.

Authors:  M P Uitendaal; C H de Bruyn; T L Oei; P Hösli
Journal:  Biochem Genet       Date:  1978-12       Impact factor: 1.890
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