Literature DB >> 3939536

A case of severe hypoxanthine-guanine phosphoribosyl transferase deficiency.

T Zanić, V Gamulin, K Lipovac.   

Abstract

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Year:  1985        PMID： 3939536     DOI： 10.1007/bf01801670

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


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  3 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.  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

3.  Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome.

Authors:  B Bakay; E Nissinen; L Sweetman; U Francke; W L Nyhan
Journal:  Pediatr Res       Date:  1979-12       Impact factor: 3.756
  3 in total
  2 in total

1.  Phenotypic variation among seven members of one family with deficiency of hypoxanthine-guanine phosphoribosyltransferase.

Authors:  Irène Ceballos-Picot; Franck Augé; Rong Fu; Anne Olivier-Bandini; Julie Cahu; Brigitte Chabrol; Bernard Aral; Bérengère de Martinville; Jean-Paul Lecain; H A Jinnah
Journal:  Mol Genet Metab       Date:  2013-09-08       Impact factor: 4.797

Review 2.  Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

Authors:  Rong Fu; Irene Ceballos-Picot; Rosa J Torres; Laura E Larovere; Yasukazu Yamada; Khue V Nguyen; Madhuri Hegde; Jasper E Visser; David J Schretlen; William L Nyhan; Juan G Puig; Patrick J O'Neill; H A Jinnah
Journal:  Brain       Date:  2013-08-22       Impact factor: 13.501
  2 in total

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