Literature DB >> 5416258

Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase. A study of a family.

M D Kogut, G N Donnell, W L Nyhan, L Sweetman.   

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Year:  1970        PMID: 5416258     DOI: 10.1016/0002-9343(70)90111-7

Source DB:  PubMed          Journal:  Am J Med        ISSN: 0002-9343            Impact factor:   4.965


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  12 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.  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.  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.  Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.

Authors:  B Bakay; W L Nyhan; N Fawcett; M D Kogut
Journal:  Biochem Genet       Date:  1972-08       Impact factor: 1.890

5.  The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.

Authors:  B Bakay; W L Nyhan
Journal:  Biochem Genet       Date:  1971-02       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.  Juvenile gout.

Authors: 
Journal:  Br Med J       Date:  1972-01-15

8.  Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.

Authors:  B Bakay; W L Nyhan
Journal:  Proc Natl Acad Sci U S A       Date:  1972-09       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.  Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.

Authors:  P J Benke; N Herrick; A Hebert
Journal:  J Clin Invest       Date:  1973-09       Impact factor: 14.808

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