Literature DB >> 5658470

Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.

W N Kelley.   

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Year:  1968        PMID: 5658470

Source DB:  PubMed          Journal:  Fed Proc        ISSN: 0014-9446


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  17 in total

1.  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

2.  Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.

Authors:  K K Harden; J L Robinson
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

3.  Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

Authors:  J A McDonald; W N Kelley
Journal:  Biochem Genet       Date:  1972-02       Impact factor: 1.890

4.  Benign, recessively inherited choreo-athetosis of early onset.

Authors:  P A Nutting; B R Cole; R N Schimke
Journal:  J Med Genet       Date:  1969-12       Impact factor: 6.318

5.  Genetic heterogeneity in inherited disease.

Authors:  H Harris
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

6.  Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

Authors:  R J Albertini; R DeMars
Journal:  Biochem Genet       Date:  1974-05       Impact factor: 1.890

Review 7.  Genetical theory and the "inborn errors of metabolism".

Authors:  H Harris
Journal:  Br Med J       Date:  1970-02-07

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

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

9.  [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

Review 10.  Hypoxanthine-guanine phosphoribosyl transferase deficiency.

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

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