Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population (original) (raw)
Concentration and synthesis of phosphoribosylpyrophosphate in erythrocytes from normal, hyperuricemic, and gouty subjects
F. Meyskens
Metabolism, 1971
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Characterization of the biochemical basis of a complete deficiency of the adenine phosphoribosyl transferase (APRT)
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Human Genetics, 1981
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Seminars in Nephrology, 2004
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Juan Garcia Puig
Metabolism, 1989
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Phenotype and Genotype Characterization of Adenine Phosphoribosyltransferase Deficiency
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A reappraisal of the concept of an abnormality of glutamine metabolism in primary gout
Frank Starmer
PubMed, 1973
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Adenine Phosphoribosyltransferase Deficiency
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Clinical Journal of the American Society of Nephrology, 2012
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Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity
Elaine Spector
Somatic cell genetics, 1978
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A simultaneous study of glycine-N15 incorporation into uric acid and heme, and of Fe59 utilization, in a case of gout associated with polycythemia secondary to congenital heart disease
Jean Benedict
The American Journal of Medicine, 1953
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Michel Daudon, Albert Bensman
Pediatric nephrology (Berlin, Germany), 2012
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Acquired increases of human erythrocyte purine enzymes
Sheila Lacroix
Metabolism, 1976
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Pathways of adenine nucleotide catabolism in erythrocytes
Françoise Bontemps
Journal of Clinical Investigation, 1986
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Adenosine metabolism in human erythrocytes
F. Meyskens
Biochimica et biophysica acta, 1971
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Altered purine and pyrimidine metabolism in erythrocytes with purine nucleoside phosphorylase deficiency
Kenneth Rich
Biochemical Genetics, 1980
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The Biochemical & Physiological Implication of Gout
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Molecular and Cellular Biochemistry, 2000
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Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency
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Clinical Science, 1978
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Barbara Tavazzi
NDT Plus, 2008
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Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency
Donald Paglia
Blood, 1972
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R. Guerranti
Biomedicine & Pharmacotherapy, 2001
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Adenine-induced hyperphosphatemia in a murine model of renal insufficiency
Christian Helvig
Nephrology and Renal Diseases, 2017
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Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient
Amrik Sahota
American journal of human genetics, 1991
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Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
Susanne Savely
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Case of purine nucleoside phosphorylase deficiency presented with hematuria
Mustafa Bak
Open Journal of Pediatrics, 2012
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Distinction between alkaline phosphatase and Mg2+-ATPase of the human polymorphonuclear leukocyte
Charles McCall
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Levels and variability of purine nucleotides in normal human lymphocytes
Brunetta Porcelli, R. Leoncini
Biomedicine & Pharmacotherapy, 1992
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