Published in Proc Natl Acad Sci U S A on October 01, 1973
Immunochemical studies on cultured fibroblasts from patients with inherited methylmalonic acidemia. Proc Natl Acad Sci U S A (1981) 1.16
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction. J Clin Invest (1976) 1.00
Yeast GMP kinase mutants constitutively express AMP biosynthesis genes by phenocopying a hypoxanthine-guanine phosphoribosyltransferase defect. Genetics (2000) 0.96
Characterization of beta-D-galactosidase isolated from I-cell disease liver. Am J Hum Genet (1975) 0.88
Purine oversecretion in cultured murine lymphoma cells deficient in adenylosuccinate synthetase: genetic model for inherited hyperuricemia and gout. Proc Natl Acad Sci U S A (1982) 0.88
Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase. Proc Natl Acad Sci U S A (1978) 0.86
Genetic studies on the role of the nucleoside transport function in nucleoside efflux, the inosine cycle, and purine biosynthesis. Mol Cell Biol (1983) 0.86
Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology. Ann Rheum Dis (1980) 0.82
Human purine metabolism: some recent advances and relationships with immunodeficiency. Ann Rheum Dis (1983) 0.77
Proceedings of a symposium on crystal-related arthropathies. 22 October and 23 October, 1982, Bristol Polytechnic, Bristol. Ann Rheum Dis (1983) 0.75
Biochemical and structural investigations on phosphoribosylpyrophosphate synthetase from Mycobacterium smegmatis. PLoS One (2017) 0.75
Isolation of a Chinese hamster cell mutant with low intracellular phosphoribosylpyrophosphate concentration. Mol Cell Biol (1982) 0.75
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
Heme biosynthesis in intermittent acute prophyria: decreased hepatic conversion of porphobilinogen to porphyrins and increased delta aminolevulinic acid synthetase activity. Proc Natl Acad Sci U S A (1970) 2.33
Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem (1968) 2.08
The multiple forms of mammalian hexokinase and their significance to the action of insulin. Adv Enzyme Regul (1967) 1.90
Starch gel electrophoresis of lactic dehydrogenase from rat kidney. Proc Soc Exp Biol Med (1960) 1.58
A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity. Am J Hum Genet (1969) 1.51
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. J Mol Biol (1970) 1.49
Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties. J Biol Chem (1971) 1.38
Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production. Rev Eur Etud Clin Biol (1973) 1.31
Phosphoribosylpyrophosphate in man: biochemical and clinical significance. Ann Intern Med (1971) 1.28
Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. Science (1973) 1.23
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity. Am J Med (1973) 1.08
Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes. Science (1970) 1.01
Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome. J Clin Invest (1972) 0.87
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
A specific enzyme defect in gout associated with overproduction of uric acid. Proc Natl Acad Sci U S A (1967) 3.29
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). Proc Natl Acad Sci U S A (1977) 2.90
Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22. Science (1992) 2.89
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med (1969) 2.84
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science (1967) 2.12
Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem (1968) 2.08
The purification and characterization of O-acetylserine sulfhydrylase-A from Salmonella typhimurium. J Biol Chem (1969) 2.04
Purification and characterization of cysteine synthetase, a bifunctional protein complex, from Salmonella typhimurium. J Biol Chem (1969) 1.96
Adenosine kinase initiates the major route of ribavirin activation in a cultured human cell line. Proc Natl Acad Sci U S A (1978) 1.79
Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. J Pediatr (1968) 1.76
Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell lines. Proc Natl Acad Sci U S A (1979) 1.72
Hyperuricemia and gout. Classification, complications and management. N Engl J Med (1979) 1.71
Suppression of metabolic accompaniments of phagocytosis by colchicine. Arthritis Rheum (1965) 1.70
Immunochemical characterization of mammalian protein synthesis initiation factors. Biochemistry (1982) 1.68
A multiobserver, population-based analysis of histologic dysplasia in melanocytic nevi. J Am Acad Dermatol (1994) 1.64
Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Biochem Biophys Res Commun (1967) 1.58
An enzymatic spectrophotometric method for the determination of xanthine and hypoxanthine. Clin Chem (1967) 1.57
Febuxostat in the treatment of gout: 5-yr findings of the FOCUS efficacy and safety study. Rheumatology (Oxford) (2009) 1.50
Evidence for intergenic complementation in hybrid cells derived from two human diploid strains each carrying an X-linked mutation. Proc Natl Acad Sci U S A (1969) 1.48
Urinary xanthine stones--a rare complications of allopurinol therapy. N Engl J Med (1969) 1.45
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency. N Engl J Med (1968) 1.45
IgA class antibodies in dermatitis herpetiformis: reaction with tissue antigens. J Invest Dermatol (1989) 1.44
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. Proc Natl Acad Sci U S A (1970) 1.42
Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes. Science (1977) 1.40
Differential sensitivity of human leukemic T cell lines and B cell lines to growth inhibition by deoxyadenosine. J Immunol (1978) 1.40
Adenosine deaminase deficiency and severe combined immunodeficiency disease. Adv Enzymol Relat Areas Mol Biol (1980) 1.39
Retroviral vector-mediated gene transfer into human hematopoietic progenitor cells. Science (1985) 1.39
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest (1968) 1.38
Ventilatory management casebook. Neonatal respiratory failure: response to volume ventilation. J Perinatol (1993) 1.38
New prospects for understanding and control of genetic diseases. Arch Intern Med (1972) 1.38
Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4-hydroxypyrazolo[3,4-d] pyrimidine). J Lab Clin Med (1965) 1.37
What syndrome is this? Oculocerebrocutaneous syndrome (Delleman syndrome). Pediatr Dermatol (2000) 1.37
The acute attack of gouty arthritis. Arthritis Rheum (1965) 1.37
The presence of a kinin in inflammatory synovial effusion from arthritides of varying etiologies. Arthritis Rheum (1967) 1.36
Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis. J Clin Invest (1976) 1.36
Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects. JAMA (1967) 1.34
An enzymatic determination of ammonia in biological fluids. J Lab Clin Med (1965) 1.34
Regulation of de novo purine biosynthesis in human lymphoblasts. Coordinate control of proximal (rate-determining) steps and the inosinic acid branch point. J Biol Chem (1976) 1.34
Biochemical diagnosis of an X-linked disease in utero. Lancet (1968) 1.34
Pleiotrophy in a cysteine-requiring mutant of Samonella typhimurium resulting from altered protein-protein interaction. J Biol Chem (1969) 1.33
Chondrocyte-derived apoptotic bodies and calcification of articular cartilage. Proc Natl Acad Sci U S A (1998) 1.33
Protein synthesis initiation factors from human HeLa cells and rabbit reticulocytes are similar: comparison of protein structure, activities, and immunochemical properties. Biochemistry (1982) 1.32
Lesch-Nyhan syndrome: preventive control by prenatal diagnosis. Science (1970) 1.31
Altered regulation of Epstein-Barr virus induced lymphoblast proliferation in rheumatoid arthritis lymphoid cells. Arthritis Rheum (1980) 1.31
Adenosine metabolism in phytohemagglutinin-stimulated human lymphocytes. J Clin Invest (1976) 1.29
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem (1968) 1.28
Cystine: compartmentalization within lysosomes in cystinotic leukocytes. Science (1969) 1.27
The enzymatic synthesis of 5-amino-4-imidazolecarboxamide riboside triphosphate (ZTP). Science (1984) 1.26
Effects of ascorbic acid in alkaptonuria: alterations in benzoquinone acetic acid and an ontogenic effect in infancy. Pediatr Res (1989) 1.25
Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines. Proc Natl Acad Sci U S A (1974) 1.25
Stimulation of human purine synthesis de novo by fructose infusion. Metabolism (1975) 1.25
Answer to criticism of Morton and Lalouel. Am J Hum Genet (1977) 1.24
Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. Science (1973) 1.23
Age-related physiological changes and their clinical significance. West J Med (1981) 1.21
Cystinosis. Combined clinical staff conference at the National Institutes of Health. Ann Intern Med (1968) 1.20
Differential effects of aging on human chondrocyte responses to transforming growth factor beta: increased pyrophosphate production and decreased cell proliferation. Arthritis Rheum (1997) 1.19
Synthesis of phosphoribosylpyrophosphate in mammalian cells. Adv Enzymol Relat Areas Mol Biol (1979) 1.18
Inheritance of purine phosphoribosyltransferases in man. Am J Hum Genet (1969) 1.15
Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures. Proc Natl Acad Sci U S A (1971) 1.15
Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. J Biol Chem (1999) 1.12
Isolation and functional characterization of the von Willebrand factor-binding domain located between residues His1-Arg293 of the alpha-chain of glycoprotein Ib. J Biol Chem (1988) 1.11
Transport and intracellular fate of cysteine-35S in leukocytes from normal subjects and patients with cystinosis. Pediatr Res (1968) 1.11
Regulation of de novo purine synthesis in human lymphoblasts. Similar rates of de novo synthesis during growth by normal cells and mutants deficient in hypoxanthine-guanine phosphoribosyltransferase activity. J Biol Chem (1977) 1.10
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity. Am J Med (1973) 1.08
Quantitative immunoassay of adenosine deaminase in combined immunodeficiency disease. J Immunol (1977) 1.08
Xanthine phosphoribosyltransferase in man: relationship to hypoxanthine-guanine phosphoribosyltransferase. Biochem Biophys Res Commun (1967) 1.08
Purification and properties of nitrogenase from the cyanobacterium, Anabaena cylindrica. Eur J Biochem (1979) 1.07
Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes. J Biol Chem (1975) 1.07
A modified Delphi exercise to determine the extent of consensus with OMERACT outcome domains for studies of acute and chronic gout. Ann Rheum Dis (2007) 1.07
Hip involvement in ankylosing spondylitis. Arthritis Rheum (1976) 1.07
Ecto-5'-nucleotidase activity in T and B lymphocytes from normal subjects and patients with congenital X-linked agammaglobulinemia. J Immunol (1979) 1.07
Discrimination of human placental alkaline phosphatase allelic variants by monoclonal antibodies. Am J Hum Genet (1983) 1.06
Work productivity loss due to flares in patients with chronic gout refractory to conventional therapy. J Med Econ (2010) 1.06
Identification of the cutaneous basement membrane zone antigen and isolation of antibody in linear immunoglobulin A bullous dermatosis. J Clin Invest (1990) 1.05
Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector. J Biol Chem (1984) 1.05
Luminescent immobilized enzyme test systems for inorganic pyrophosphate: assays using firefly luciferase and nicotinamide-mononucleotide adenylyl transferase or adenosine-5'-triphosphate sulfurylase. Anal Biochem (1991) 1.05
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
Interleukin 1 beta suppresses transforming growth factor-induced inorganic pyrophosphate (PPi) production and expression of the PPi-generating enzyme PC-1 in human chondrocytes. Proc Natl Acad Sci U S A (1995) 1.04
Attitudes towards mental health care in younger and older adults: similarities and differences. Aging Ment Health (2003) 1.04
The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism. J Clin Invest (1967) 1.04
Properties of 5-phosphoribosyl-1-pyrophosphate amidotransferase from human lymphoblasts. J Biol Chem (1973) 1.04
Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man. Am J Med (1972) 1.02
Relationships between glycogen storage disease and tophaceous gout. Am J Med (1967) 1.01
Substrate stabilization: genetically controlled reciprocal relationship of two human enzymes. Science (1970) 1.01
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report. J Pediatr (1970) 1.01
Adenine nucleotide degradation during energy depletion in human lymphoblasts. Adenosine accumulation and adenylate energy charge correlation. J Biol Chem (1979) 1.01
Ventilatory management casebook. Bronchopulmonary dysplasias. Response to pressure support ventilation. J Perinatol (1995) 1.00
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction. J Clin Invest (1976) 1.00
Penetrance and expressivity of the chromosome 9p melanoma susceptibility locus (MLM). Cancer Res (1994) 1.00
Evidence against the reported linkage of the cutaneous melanoma-dysplastic nevus syndrome locus to chromosome Ip36. Am J Hum Genet (1990) 1.00