Literature DB >> 2502677

Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism.

J E Seegmiller1.   

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Year:  1989        PMID： 2502677     DOI： 10.1007/bf01800725

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  54 in total

1.  Behavior in the Lesch--Nyhan syndrome.

Authors:  W L Nyhan
Journal:  J Autism Child Schizophr       Date:  1976-09

2.  METABOLIC and clinical aspects of gout.

Authors: 
Journal:  Am J Med       Date:  1957-05       Impact factor: 4.965

Review 3.  2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant.

Authors:  D Glicklich; H E Gruber; A J Matas; V A Tellis; G Karwa; K Finley; C Salem; R Soberman; J E Seegmiller
Journal:  Q J Med       Date:  1988-10

4.  Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity.

Authors:  M A Becker; L J Meyer; J E Seegmiller
Journal:  Am J Med       Date:  1973-08       Impact factor: 4.965

5.  Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

Authors:  E Zoref; A De Vries; O Sperling
Journal:  J Clin Invest       Date:  1975-11       Impact factor: 14.808

6.  Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.

Authors:  F M Rosenbloom; W N Kelley; J Miller; J F Henderson; J E Seegmiller
Journal:  JAMA       Date:  1967-10-16       Impact factor: 56.272

7.  The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism.

Authors:  W N Kelley; F M Rosenbloom; J E Seegmiller
Journal:  J Clin Invest       Date:  1967-09       Impact factor: 14.808

8.  Metabolism of biogenic amines in neuroblastoma and glioma cells in culture.

Authors:  S D Skaper; G L Adelson; J E Seegmiller
Journal:  J Neurochem       Date:  1976-11       Impact factor: 5.372

9.  Abnormal purine metabolism and purine overproduction in a patient deficient in purine nucleoside phosphorylase.

Authors:  A Cohen; D Doyle; D W Martin; A J Ammann
Journal:  N Engl J Med       Date:  1976-12-23       Impact factor: 91.245

10.  Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4-hydroxypyrazolo[3,4-d] pyrimidine).

Authors:  R W Watts; J E Watts; J E Seegmiller
Journal:  J Lab Clin Med       Date:  1965-10
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  5 in total

Review 1.  Advances in the study of inherited metabolic disease.

Authors:  D A Gibbs
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

Review 2.  Update on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.

Authors:  Rosa J Torres; Juan G Puig; H A Jinnah
Journal:  Curr Rheumatol Rep       Date:  2012-04       Impact factor: 4.592

Review 3.  Clinical and biochemical aspects of uric acid overproduction.

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

Review 4.  Genotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan disease.

Authors:  Rong Fu; Chung-Jen Chen; H A Jinnah
Journal:  Mol Genet Metab       Date:  2014-05-28       Impact factor: 4.797

Review 5.  Delineation of the motor disorder of Lesch-Nyhan disease.

Authors:  H A Jinnah; Jasper E Visser; James C Harris; Alfonso Verdu; Laura Larovere; Irene Ceballos-Picot; Pedro Gonzalez-Alegre; Vladimir Neychev; Rosa J Torres; Olivier Dulac; Isabelle Desguerre; David J Schretlen; Kenneth L Robey; Gabor Barabas; Bastiaan R Bloem; William Nyhan; Raquel De Kremer; Gary E Eddey; Juan G Puig; Stephen G Reich
Journal:  Brain       Date:  2006-03-20       Impact factor: 13.501
  5 in total

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