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

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

http://www.wikidata.org/entity/Q36463843

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Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome Purine metabolism in female heterozygotes for hypoxanthine-guanine phosphoribosyltransferase deficiency Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency The isolation and characterization of Saccharomyces cerevisiae mutants that constitutively express purine biosynthetic genes.Structural features of the phosphoribosyltransferases and their relationship to the human deficiency disorders of purine and pyrimidine metabolism Gout and neurological abnormalities associated with cardiomyopathy in a young man.Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.Investigation and management of gout in the young and the elderly.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.Glycine-C-14 incorporation into nucleic acid purine by leucocytes obtained from normal and gouty subjects.Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients Mechanism of allopurinol-mediated increase in enzyme activity in man.Suppression of glycine-15N incorporation into urinary uric acid by adenine-8-13C in normal and gouty subjects.Variations in purine metabolism of cultured skin fibroblasts from patients with gout.Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome.A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man.Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage.Clinical utility gene card for: Lesch-Nyhan syndrome.Control of hyperuricemia in subjects with refractory gout, and induction of antibody against poly(ethylene glycol) (PEG), in a phase I trial of subcutaneous PEGylated urate oxidase Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.Integrative physiology and functional genomics of epithelial function in a genetic model organism.Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome Inheritance of purine phosphoribosyltransferases in man.Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.Family studies of a Lesch-Nyhan patient from an isolated Canadian community.Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects A role for adenosine deaminase in human monocyte maturation Somatic cell genetics The organization of the human HPRT gene

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P2860

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

http://www.wikidata.org/entity/Q36463843

description

1967 nî lūn-bûn

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1967年の論文

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1967年学术文章

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1967年学术文章

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1967年学术文章

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1967年学术文章

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1967年学术文章

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1967年學術文章

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1967年學術文章

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1967年學術文章

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

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

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

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

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

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

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Proceedings of the National Academy of Sciences of the United States of America

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

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Henderson JF

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Kelley WN

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Rosenbloom FM

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Seegmiller JE

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P2860

A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

Uric acid production in gout.

Suppression of uric acid synthesis in the gouty human by the use of 6-diazo-5-oxo-L-norleucine

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

The enzymatic spectrophotometric method for determination of uric acid.

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1735-1739

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scholarly article

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10.1073/PNAS.57.6.1735

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6

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57

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1967-06-01T00:00:00Z

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18873803

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4291947

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224540

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