Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndromePurine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiencyGenotypic and phenotypic spectrum in attenuated variants of Lesch-Nyhan diseaseTernary complex structure of human hgprtase, prpp, mg2+, and the inhibitor HPP reveals the involvement of the flexible loop in substrate bindingPurification and characterization of the hypoxanthine-guanine phosphoribosyltransferase from Saccharomyces cerevisiae.Yeast GMP kinase mutants constitutively express AMP biosynthesis genes by phenocopying a hypoxanthine-guanine phosphoribosyltransferase defectStructural features of the phosphoribosyltransferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolismHPRT-deficiency associated with normal PRPP concentration and APRT activityGout and neurological abnormalities associated with cardiomyopathy in a young man.A new method for the determination of adenine phosphoribosyltransferase activity in human erythrocytes by reversed phase high performance liquid chromatography.Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.Gout and its relation to lipid metabolism. I. Serum uric acid, lipid, and lipoprotein levels in gout.Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome.Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblastsAttenuated variants of Lesch-Nyhan diseaseDiaminopurine-resistant mutants of cultured, diploid human fibroblasts.Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase.Molecular variation in relation to purine metabolismHypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.A new HGPRT-deficient phenotype?Activation of variants of hypoxanthine-guanine phosphoribosyl transferase by the normal enzyme.Purine metabolism in normal and thioguanine-resistant neuroblastoma.Clinical pharmacology. Possible clinical importance of genetic differences in drug metabolismComparative complement selection in bacteria enables screening for lead compounds targeted to a purine salvage enzyme of parasitesClinical and biochemical studies on treatment of Lesch-Nyhan syndrome.Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproductionHypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.X-chromosome inactivation and the Xg locusAbsence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotesHypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.The organization of the human HPRT geneUpdate on the phenotypic spectrum of Lesch-Nyhan disease and its attenuated variants.Purine oversecretion in cultured murine lymphoma cells deficient in adenylosuccinate synthetase: genetic model for inherited hyperuricemia and goutProtein variations associated with Lesch-Nyhan syndrome.
P2860
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P2860
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
description
1969 nî lūn-bûn
@nan
1969年の論文
@ja
1969年学术文章
@wuu
1969年学术文章
@zh-cn
1969年学术文章
@zh-hans
1969年学术文章
@zh-my
1969年学术文章
@zh-sg
1969年學術文章
@yue
1969年學術文章
@zh
1969年學術文章
@zh-hant
name
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@en
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@nl
type
label
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@en
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@nl
prefLabel
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@en
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@nl
P2093
P1476
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.
@en
P2093
Henderson JF
Rosenbloom FM
Seegmiller JE
P304
P356
10.7326/0003-4819-70-1-155
P407
P577
1969-01-01T00:00:00Z