Published in Proc Natl Acad Sci U S A on June 01, 1967
Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells. Proc Natl Acad Sci U S A (1968) 2.05
Assignment of the gene for adenine phosphoribosyltransferase to human chromosome 16 by mouse-human somatic cell hybridization. Proc Natl Acad Sci U S A (1974) 1.97
The organization of the human HPRT gene. Nucleic Acids Res (1986) 1.75
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme. J Clin Invest (1982) 1.65
A role for adenosine deaminase in human monocyte maturation. J Clin Invest (1976) 1.55
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis (2007) 1.48
A new reduced human-mouse somatic cell hybrid containing the human gene for adenine phosphoribosyltransferase. Proc Natl Acad Sci U S A (1971) 1.47
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. Arthritis Res Ther (2006) 1.45
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. Proc Natl Acad Sci U S A (1970) 1.42
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc Natl Acad Sci U S A (1983) 1.39
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest (1968) 1.38
The isolation and characterization of Saccharomyces cerevisiae mutants that constitutively express purine biosynthetic genes. Genetics (1997) 1.31
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. J Clin Invest (1986) 1.28
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
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome. J Clin Invest (1972) 1.21
Inheritance of purine phosphoribosyltransferases in man. Am J Hum Genet (1969) 1.15
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. J Clin Invest (1989) 1.08
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome. J Clin Invest (1983) 1.05
Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. J Clin Invest (1980) 1.04
Family studies of a Lesch-Nyhan patient from an isolated Canadian community. Am J Hum Genet (1973) 1.04
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein. Proc Natl Acad Sci U S A (1975) 1.03
Gout and its relation to lipid metabolism. I. Serum uric acid, lipid, and lipoprotein levels in gout. Ann Rheum Dis (1973) 1.03
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
Hereditary xanthinuria. Evidence for enhanced hypoxanthine salvage. J Clin Invest (1987) 0.95
Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Am J Hum Genet (1991) 0.95
Studies on the coordinate activity and liability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration. J Clin Invest (1971) 0.94
Suppression of glycine-15N incorporation into urinary uric acid by adenine-8-13C in normal and gouty subjects. J Clin Invest (1968) 0.93
Variations in purine metabolism of cultured skin fibroblasts from patients with gout. J Clin Invest (1968) 0.92
Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia. J Clin Invest (1976) 0.91
Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout. J Clin Invest (1975) 0.90
Molecular basis of hereditary disease. Br Med J (1968) 0.90
ATP depletion, a possible role in the pathogenesis of hyperuricemia in glycogen storage disease type I. J Clin Invest (1978) 0.89
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis. J Clin Invest (1983) 0.88
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency. Ann Rheum Dis (1975) 0.87
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage. J Clin Invest (1979) 0.87
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. Am J Hum Genet (1970) 0.86
Genetical theory and the "inborn errors of metabolism". Br Med J (1970) 0.86
The kinetics of intramolecular distribution of 15N in uric acid after administration of (15N) glycine. A reappraisal of the significance of preferential labeling of N-(3+9) of uric acid in primary gout. J Clin Invest (1973) 0.86
Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. Eur J Hum Genet (2013) 0.85
Investigation and management of gout in the young and the elderly. Ann Rheum Dis (1991) 0.85
ALDH16A1 is a novel non-catalytic enzyme that may be involved in the etiology of gout via protein-protein interactions with HPRT1. Chem Biol Interact (2013) 0.85
Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency). Proc Natl Acad Sci U S A (1969) 0.85
Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. J Clin Invest (1989) 0.83
Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology. Ann Rheum Dis (1980) 0.82
Mechanism of allopurinol-mediated increase in enzyme activity in man. J Clin Invest (1972) 0.81
Developmental changes in purine phosphoribosyltransferases in human and rat tissues. Biochem J (1976) 0.81
Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome. J Med Genet (1976) 0.80
Ubiquitous and neuronal DNA-binding proteins interact with a negative regulatory element of the human hypoxanthine phosphoribosyltransferase gene. Mol Cell Biol (1995) 0.79
Phosphoribosyl transferase activity in normal subjects, gout patients, and children with mental retardation. J Neurol Neurosurg Psychiatry (1971) 0.79
Hypoxanthine-guanine phosphoribosyltransferase. Genetic evidence for identical mutations in two partially deficient subjects. J Clin Invest (1988) 0.79
Inborn errors of purine metabolism: clinical update and therapies. J Inherit Metab Dis (2014) 0.78
Glycine-C-14 incorporation into nucleic acid purine by leucocytes obtained from normal and gouty subjects. Ann Rheum Dis (1969) 0.78
The route of non-enzymic and enzymic breakdown of 5-phosphoribosyl 1-pyrophosphate to ribose 1-phosphate. Biochem J (1990) 0.78
Novel hypoxanthine guanine phosphoribosyltransferase gene mutations in Saudi Arabian hyperuricemia patients. Biomed Res Int (2014) 0.77
Relation between creatinine and uric acid excretion. Ann Rheum Dis (1992) 0.76
Current concepts of hyperuricemia and gout. Calif Med (1969) 0.75
A reappraisal of the concept of an abnormality of glutamine metabolism in primary gout. Trans Am Clin Climatol Assoc (1973) 0.75
Gout and neurological abnormalities associated with cardiomyopathy in a young man. Ann Rheum Dis (1990) 0.75
Dietary-induced variation of hypoxanthine-guanine phosphoribosyl transferase activity in patients with the Lesch-Nyhan syndrome. J Clin Invest (1973) 0.75
Comparative study of 6-mercaptopurine metabolism in human leukemic leukocytes and L1210 cells. Antimicrob Agents Chemother (1977) 0.75
Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme. Trans Am Clin Climatol Assoc (1983) 0.75
Somatic cell genetics. Can Med Assoc J (1971) 0.75
Genetics and clinical enzymology. J Clin Pathol Suppl (Assoc Clin Pathol) (1970) 0.75
Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness. Am J Hum Genet (1974) 0.75
Clinical utility gene card for: Lesch-Nyhan syndrome. Eur J Hum Genet (2010) 0.75
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. Am J Med (1964) 7.97
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
The metabolism of uric acid in the normal and gouty human studied with the aid of isotopic uric acid. J Biol Chem (1949) 6.63
The enzymatic spectrophotometric method for determination of uric acid. J Lab Clin Med (1959) 6.43
Uric acid production in gout. J Clin Invest (1961) 3.62
A microcolorimetric determination of creatine in urine by the Jaffe reaction. J Biol Chem (1954) 2.48
Incorporation of glycine nitrogen into uric acid in normal and gouty man. Metabolism (1952) 2.38
HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES. N Engl J Med (1965) 1.77
X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia. Proc Soc Exp Biol Med (1966) 1.61
Biochemistry of uric acid and its relation to gout. N Engl J Med (1963) 1.27
Suppression of uric acid synthesis in the gouty human by the use of 6-diazo-5-oxo-L-norleucine. J Clin Invest (1960) 1.23
Renal calculi preceding gouty arthritis in a child. Am J Med (1962) 1.01
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science (1967) 7.75
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
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. Ann Intern Med (1969) 2.84
A possible nucleotide-binding domain in the tertiary fold of phosphoribosyltransferases. J Biol Chem (1983) 2.60
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. Am J Hum Genet (1976) 2.51
The role of adenosine and 2'-deoxyadenosine in mammalian cells. Annu Rev Biochem (1978) 2.49
Human adenosine deaminase. cDNA and complete primary amino acid sequence. J Biol Chem (1984) 2.33
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
Purinogenic immunodeficiency diseases: selective toxicity of deoxyribonucleosides for T cells. Proc Natl Acad Sci U S A (1978) 1.93
Some biophysical properties of virus present in tissue cultures infected with the nuclear polyhedrosis virus of Trichoplusia ni. J Gen Virol (1974) 1.89
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
Morphogenesis of nuclear polyhedrosis virus under conditions of prolonged passage in vitro. J Ultrastruct Res (1974) 1.75
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
Studies on the mechanism of fructose-induced hyperuricemia in man. Metabolism (1972) 1.67
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme. J Clin Invest (1982) 1.65
Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. J Clin Invest (1987) 1.59
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
Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme. Science (1971) 1.56
Serial passage of a nuclear polyhedrosis disease virus of the cabbage looper (Trichoplusia ni) in a continuous tissue culture cell line. Virology (1972) 1.55
A role for adenosine deaminase in human monocyte maturation. J Clin Invest (1976) 1.55
Human glutamine phosphoribosylpyrophosphate amidotransferase. Kinetic and regulatory properties. J Biol Chem (1973) 1.53
Human adenosine deaminase. Distribution and properties. J Biol Chem (1976) 1.53
Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. N Engl J Med (1981) 1.48
Measurement of DNA in cultured human cells. Anal Biochem (1974) 1.48
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
Specificity of adenosine deaminase inhibitors. Biochem Pharmacol (1977) 1.47
Xanthine nephropathy in a patient with lymphosarcoma treated with allopurinol. N Engl J Med (1970) 1.46
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
Molecular cloning of human adenosine deaminase gene sequences. J Biol Chem (1983) 1.44
Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity. J Biol Chem (1971) 1.43
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and subunit structure. J Biol Chem (1971) 1.42
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
The integrated inpatient management model. A new approach to clinical practice. Ann Intern Med (1989) 1.39
Human hypoxanthine (guanine) phosphoribosyltransferase: an amino acid substitution in a mutant form of the enzyme isolated from a patient with gout. Proc Natl Acad Sci U S A (1983) 1.39
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. J Clin Invest (1968) 1.38
Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties. J Biol Chem (1971) 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
The acute attack of gouty arthritis. Arthritis Rheum (1965) 1.37
Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese. J Clin Invest (1988) 1.36
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
Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition. J Biol Chem (1972) 1.36
Transient expression of human adenosine deaminase cDNAs: identification of a nonfunctional clone resulting from a single amino acid substitution. Mol Cell Biol (1985) 1.35
Human adenosine deaminase. Purification and subunit structure. J Biol Chem (1977) 1.35
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
Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme. J Biol Chem (1982) 1.33
Chondrocyte-derived apoptotic bodies and calcification of articular cartilage. Proc Natl Acad Sci U S A (1998) 1.33
Rate-limiting steps in the interconversion of purine ribonucleotides in Ehrlich ascites tumor cells in vitro. Cancer Res (1971) 1.33
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme. J Biol Chem (1981) 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
Consequences of inhibition of guanine nucleotide synthesis by mycophenolic acid and virazole. Cancer Res (1977) 1.28
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. J Biol Chem (1968) 1.28
Phosphoribosylpyrophosphate in man: biochemical and clinical significance. Ann Intern Med (1971) 1.28
A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. J Clin Invest (1986) 1.28
Alternative pathways of deoxyadenosine and adenosine metabolism. J Biol Chem (1973) 1.27
Cystine: compartmentalization within lysosomes in cystinotic leukocytes. Science (1969) 1.27
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
Molecular form of adenosine deaminase in severe combined immunodeficiency. Biochem Biophys Res Commun (1974) 1.24
Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure. J Biol Chem (1978) 1.24
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
Inhibition of purine nucleoside phosphorylase by 8-aminoguanosine: selective toxicity for T lymphoblasts. Science (1981) 1.21