Literature DB >> 5551690

Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation.

C Eyre, A N Davison, J T Scott.   

Abstract

Activity of hypoxanthine-guanine and adenine phosphoribosyl transferase enzymes has been assayed in erythrocytes from 10 normal adults, 37 subjects with gout, and 21 mentally retarded children with high and normal urinary uric acid:creatinine ratios. These were compared with one case of known HGPRTase deficiency. Apart from the last subject, no cases of HGPRTase deficiency were found.

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Year:  1971        PMID： 5551690      PMCID： PMC493681          DOI： 10.1136/jnnp.34.1.23

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  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.  Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout.

Authors:  J M Kaufman; M L Greene; J E Seegmiller
Journal:  J Pediatr       Date:  1968-10       Impact factor: 4.406

4.  An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  W N Kelley; F M Rosenbloom; J Miller; J E Seegmiller
Journal:  N Engl J Med       Date:  1968-02-08       Impact factor: 91.245

5.  A new disorder of purine metabolism with behavioral manifestations.

Authors:  W L Nyhan; J A James; A J Teberg; L Sweetman; L G Nelson
Journal:  J Pediatr       Date:  1969-01       Impact factor: 4.406

6.  Nyhan-Lesch syndrome and juvenile gout (2 cases).

Authors:  R Bluestone
Journal:  Proc R Soc Med       Date:  1968-11

7.  Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.

Authors:  J E Seegmiller; F M Rosenbloom; W N Kelley
Journal:  Science       Date:  1967-03-31       Impact factor: 47.728
  7 in total
  1 in total

1.  Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  D N Bunn; I K Moss; A Nicholls; J T Scott; M L Snaith; M R Watson
Journal:  Ann Rheum Dis       Date:  1975-06       Impact factor: 19.103
  1 in total

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