Literature DB >> 7262868

Partial hypoxanthine-guanine phosphoribosyl transferase deficiency with full expression of the Lesch-Nyhan syndrome.

G Rijksen, G E Staal, M J van der Vlist, F a Beemer, J Troost, W Gutensohn, J P van Laarhoven, C H de Bruyn.   

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Year:  1981        PMID： 7262868     DOI： 10.1007/BF00271165

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  29 in total

1.  Mechanism of allopurinol-mediated inhibition and stabilization of human orotate phosphoribosyltransferase and orotidine phosphate decarboxylase.

Authors:  W J Tax; J H Veerkamp; F J Trijbels; E D Schretlen
Journal:  Biochem Pharmacol       Date:  1976-09-15       Impact factor: 5.858

2.  Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.

Authors:  J A McDonald; W N Kelley
Journal:  Adv Exp Med Biol       Date:  1973       Impact factor: 2.622

3.  Human hypoxanthine phosphoribosyltransferase. II. Kinetics and chemical modification.

Authors:  T A Krenitsky; R Papaioannou
Journal:  J Biol Chem       Date:  1969-03-10       Impact factor: 5.157

4.  The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Authors:  B T Emmerson; L Thompson
Journal:  Q J Med       Date:  1973-04

5.  Allopurinol: alteration in pyrimidine metabolism in man.

Authors:  W N Kelley; T D Beardmore
Journal:  Science       Date:  1970-07-24       Impact factor: 47.728

6.  Analysis of serum purines and pyrimidines by isotachophoresis.

Authors:  F Oerlemans; T Verheggen; F Mikkers; F Everaerts; C de Bruyn
Journal:  Adv Exp Med Biol       Date:  1979       Impact factor: 2.622

7.  Incorporation of purine bases by intact red blood cells.

Authors:  C H de Bruyn; T L Oei
Journal:  Adv Exp Med Biol       Date:  1977       Impact factor: 2.622

8.  Fluctuating adenosine deaminase activities in cultured fibroblasts.

Authors:  M P Uitendall; C H De Bruyn; T L Oei; S J Geerts; P Hösli
Journal:  Biochem Med       Date:  1978-08

9.  A simple and sensitive method for estimating the concentration and synthesis of 5-phosphoribosyl 1-pyrophosphate in red blood cells.

Authors:  W J Tax; J H Veerkamp
Journal:  Clin Chim Acta       Date:  1977-07-15       Impact factor: 3.786

10.  Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Authors:  J Dancis; L C Yip; R P Cox; S Piomelli; M E Balis
Journal:  J Clin Invest       Date:  1973-08       Impact factor: 14.808
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  15 in total

1.  Intrastriatal hypoxanthine reduces Na(+),K (+)-ATPase activity and induces oxidative stress in the rats.

Authors:  Caren Serra Bavaresco; Fabria Chiarani; Clovis Milton Duval Wannmacher; Carlos Alexandre Netto; Angela Terezinha de Souza Wyse
Journal:  Metab Brain Dis       Date:  2007-01-17       Impact factor: 3.584

2.  Intrastriatal injection of hypoxanthine reduces striatal serotonin content and impairs spatial memory performance in rats.

Authors:  Caren Serra Bavaresco; Fabria Chiarani; Eduardo Duringon; Marcelo Machado Ferro; Cláudio Da Cunha; Carlos Alexandre Netto; Angela Terezinha de Souza Wyse
Journal:  Metab Brain Dis       Date:  2007-01-13       Impact factor: 3.584

3.  Purine metabolism in Lesch-Nyhan syndrome versus Kelley-Seegmiller syndrome.

Authors:  E A Mateos; J G Puig
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

4.  Mechanisms for phenotypic variation in Lesch-Nyhan disease and its variants.

Authors:  Radhika Sampat; Rong Fu; Laura E Larovere; Rosa J Torres; Irene Ceballos-Picot; Michel Fischbach; Raquel de Kremer; David J Schretlen; Juan Garcia Puig; H A Jinnah
Journal:  Hum Genet       Date:  2010-10-28       Impact factor: 4.132

5.  Genotype-phenotype correlations in Lesch-Nyhan disease: moving beyond the gene.

Authors:  Rong Fu; H A Jinnah
Journal:  J Biol Chem       Date:  2011-12-07       Impact factor: 5.157

6.  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

Review 7.  Clinical and biochemical aspects of uric acid overproduction.

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

Review 8.  Attenuated variants of Lesch-Nyhan disease.

Authors:  H A Jinnah; Irene Ceballos-Picot; Rosa J Torres; Jasper E Visser; David J Schretlen; Alfonso Verdu; Laura E Laróvere; Chung-Jen Chen; Antonello Cossu; Chien-Hui Wu; Radhika Sampat; Shun-Jen Chang; Raquel Dodelson de Kremer; William Nyhan; James C Harris; Stephen G Reich; Juan G Puig
Journal:  Brain       Date:  2010-02-22       Impact factor: 13.501

9.  Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome.

Authors:  J M Wilson; W N Kelley
Journal:  J Clin Invest       Date:  1983-05       Impact factor: 14.808

10.  Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene.

Authors:  A G Bouwens-Rombouts; M J van den Boogaard; J G Puig; F A Mateos; R C Hennekam; M G Tilanus
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132
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