Literature DB >> 4291947

A specific enzyme defect in gout associated with overproduction of uric acid.

W N Kelley, F M Rosenbloom, J F Henderson, J E Seegmiller.   

Abstract

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Year:  1967        PMID： 4291947      PMCID： PMC224540          DOI： 10.1073/pnas.57.6.1735

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  12 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.  Biochemistry of uric acid and its relation to gout.

Authors:  J E SEEGMILLER; L LASTER; R R HOWELL
Journal:  N Engl J Med       Date:  1963-04-04       Impact factor: 91.245

3.  Renal calculi preceding gouty arthritis in a child.

Authors:  J L DECKER; P R VANDEMAN
Journal:  Am J Med       Date:  1962-05       Impact factor: 4.965

4.  Uric acid production in gout.

Authors:  J E SEEGMILLER; A I GRAYZEL; L LASTER; L LIDDLE
Journal:  J Clin Invest       Date:  1961-07       Impact factor: 14.808

5.  The enzymatic spectrophotometric method for determination of uric acid.

Authors:  L LIDDLE; J E SEEGMILLER; L LASTER
Journal:  J Lab Clin Med       Date:  1959-12

6.  A microcolorimetric determination of creatine in urine by the Jaffe reaction.

Authors:  H H TAUSSKY
Journal:  J Biol Chem       Date:  1954-06       Impact factor: 5.157

7.  Incorporation of glycine nitrogen into uric acid in normal and gouty man.

Authors:  J D BENEDICT; M ROCHE; T F YU; E J BIEN; A B GUTMAN; D STETTEN
Journal:  Metabolism       Date:  1952-01       Impact factor: 8.694

8.  The metabolism of uric acid in the normal and gouty human studied with the aid of isotopic uric acid.

Authors:  J D BENEDICT; P H FORSHAM; D STETTEN
Journal:  J Biol Chem       Date:  1949-11       Impact factor: 5.157

9.  X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.

Authors:  S L Shapiro; G L Sheppard; F E Dreifuss; D S Newcombe
Journal:  Proc Soc Exp Biol Med       Date:  1966-06

10.  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
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  106 in total

1.  Relation between creatinine and uric acid excretion.

Authors:  Y Nishida
Journal:  Ann Rheum Dis       Date:  1992-01       Impact factor: 19.103

2.  Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).

Authors:  R B Gordon; D G Sculley; P A Dawson; I R Beacham; B T Emmerson
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  Developmental changes in purine phosphoribosyltransferases in human and rat tissues.

Authors:  A Adams; R A Harkness
Journal:  Biochem J       Date:  1976-12-15       Impact factor: 3.857

4.  Clinical utility gene card for: Lesch-Nyhan syndrome.

Authors:  Rosa J Torres; Juan G Puig; Irène Ceballos-Picot
Journal:  Eur J Hum Genet       Date:  2010-07-21       Impact factor: 4.246

Review 5.  Investigation and management of gout in the young and the elderly.

Authors:  P A Dieppe
Journal:  Ann Rheum Dis       Date:  1991-04       Impact factor: 19.103

6.  Characterization of three new deletions at the 5' end of the HPRT structural gene.

Authors:  M Wehnert; F H Herrmann
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

7.  Hypoxanthine-guanine phosphoribosyltransferase deficiency in three brothers with gout: characterization of a variant, HPRTEdinburgh, having altered isoelectric point, increased thermal lability and normal levels of messenger RNA.

Authors:  F F Snyder; J E Joyce; T Carter-Edwards; R Joshi; H L Rylance; R C Wallace; G Nuki
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

8.  Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis.

Authors:  F Takeuchi; K Matsuta; T Miyamoto; S Enomoto; S Fujimori; I Akaoka; N Kamatani; K Nishioka
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

9.  Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRTKeio).

Authors:  Y Yamada; H Goto; S Tamura; N Ogasawara
Journal:  Jpn J Hum Genet       Date:  1993-12

10.  Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout.

Authors:  J M Wilson; G E Tarr; W N Kelley
Journal:  Proc Natl Acad Sci U S A       Date:  1983-02       Impact factor: 11.205
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