Disorders of Purine and Pyrimidine Metabolism
Data up to Jan 2025
Total Citations Per Year
Abstract
References (240)
High resolution two-dimensional electrophoresis of proteins.
1975 • 19,515 citations
The Metabolic Basis of Inherited Disease
1979 • 2,083 citations
Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide.
1978 • 1,668 citations
Selectivity of action of an antiherpetic agent, 9-(2-hydroxyethoxymethyl)guanine
1977 • 1,565 citations
Preliminary criteria for the classification of the acute arthritis of primary gout
1977 • 1,409 citations
Normal genetically mosaic mice produced from malignant teratocarcinoma cells.
1975 • 1,175 citations
NUCLEOSIDE-PHOSPHORYLASE DEFICIENCY IN A CHILD WITH SEVERELY DEFECTIVE T-CELL IMMUNITY AND NORMAL B-CELL IMMUNITY
1975 • 855 citations
Inhibition of Rous sarcoma viral RNA translation by a specific oligodeoxyribonucleotide.
1978 • 841 citations
Xeroderma Pigmentosum
1974 • 755 citations
The Role of Adenosine and 2'-Deoxyadenosine in Mammalian Cells
1978 • 518 citations
Adenosine deaminase polymorphism in man
1968 • 486 citations
Mechanism of Action of 1-β-D-Ribofuranosyl-1,2,4-Triazole-3-Carboxamide (Virazole), A New Broad-Spectrum Antiviral Agent
1973 • 480 citations
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: Possible role of nucleoside kinase(s)
1977 • 416 citations
Deoxyadenosine triphosphate as a potentially toxic metabolite in adenosine deaminase deficiency.
1978 • 399 citations
Regulation of Mammalian Deoxyribonucleotide Biosynthesis by Nucleotides as Activators and Inhibitors
1966 • 395 citations
Tight-binding inhibitors—IV. Inhibition of adenosine deaminases by various inhibitors
1977 • 376 citations
The Mechanism of Action of Inhibitors of DNA Synthesis
1977 • 330 citations
Enzyme inhibitors. 26. Bridging hydrophobic and hydrophilic regions on adenosine deaminase with some 9-(2-hydroxy-3-alkyl)adenines
1974 • 298 citations
Sulfinpyrazone in the Prevention of Cardiac Death after Myocardial Infarction
1978 • 287 citations
Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency.
1978 • 277 citations
Hereditary Hemolytic Anemia with Human Erythrocyte Pyrimidine 5′-Nucleotidase Deficiency
1974 • 269 citations
Role of S-adenosylhomocysteine in adenosine-mediated toxicity in cultured mouse T lymphoma cells
1977 • 267 citations
Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase
1968 • 251 citations
Transfer of Genetic Information by Purified Metaphase Chromosomes
1973 • 236 citations
Podophyllotoxin as a probe for the colchicine binding site of tubulin.
1977 • 231 citations
Urolithiasis Research
1976 • 224 citations
N-(Phosphonacetyl)-l-Aspartate, a Potent Transition State Analog Inhibitor of Aspartate Transcarbamylase, Blocks Proliferation of Mammalian Cells in Culture
1974 • 217 citations
Deoxyguanosine Triphosphate as a Possible Toxic Metabolite in the Immunodeficiency Associated with Purine Nucleoside Phosphorylase Deficiency
1978 • 215 citations
Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome
1970 • 209 citations
Adenosine deaminase from human erythrocytes: Purification and effects of adenosine analogs
1975 • 204 citations
Five complementation groups in xeroderma pigmentosum
1975 • 199 citations
Mechanism for calcium urolithiasis among patients with hyperuricosuria: supersaturation of urine with respect to monosodium urate.
1977 • 183 citations
Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis.
1976 • 182 citations
An evaluation of the pathogenesis of the gouty kidney
1975 • 174 citations
National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20014, USA.
1975 • 170 citations
Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism
1968 • 168 citations
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man
1968 • 164 citations
Purine metabolism in adenosine deaminase deficiency.
1976 • 160 citations
The purine nucleotide cycle. Studies of ammonia production by skeletal muscle in situ and in perfused preparations.
1977 • 153 citations
Release of platelet constituents by monosodium urate crystals.
1977 • 152 citations
Behavior in the Lesch-Nyhan syndrome
1976 • 151 citations
Intrarenal dynamics in the pathogenesis and prevention of acute urate nephropathy.
1977 • 150 citations
Adenosine metabolism in phytohemagglutinin-stimulated human lymphocytes.
1976 • 149 citations
Effects of adenosine deaminase on cyclic adenosine monophosphate accumulation, lipolysis, and glucose metabolism of fat cells.
1975 • 147 citations
CYTIDINE AND URIDINE REQUIREMENT OF THE BRAIN*†
1956 • 146 citations
Mosaic mice with teratocarcinoma-derived mutant cells deficient in hypoxanthine phosphoribosyltransferase
1977 • 145 citations
Complete Deficiency of Adenine Phosphoribosyltransferase
1977 • 144 citations
Ascorbic Acid-Induced Uricosuria
1976 • 144 citations
Characterization of a cell culture model for the study of adenosine deaminase- and purine nucleoside phosphorylase-deficient immunologic disease
1976 • 143 citations
LYMPHOCYTE PURINE 5'-NUCLEOTIDASE DEFICIENCY IN PRIMARY HYPOGAMMAGLOBULINÆMIA
1977 • 134 citations
Specificity of adenosine deaminase inhibitors
1977 • 129 citations
RESTORATION OF IN-VITRO LYMPHOCYTE RESPONSES WITH EXOGENOUS ADENOSINE DEAMINASE IN A PATIENT WITH SEVERE COMBINED IMMUNODEFICIENCY
1975 • 129 citations
The purine nucleotide cycle. Studies of ammonia production and interconversions of adenine and hypoxanthine nucleotides and nucleosides by rat brain in situ.
1978 • 127 citations
Human Hypoxanthine-Guanine Phosphoribosyltransferase
1971 • 125 citations
Clinical, physiological and biochemical studies of a patient with xanthinuria and pheochromocytoma
1964 • 118 citations
Adenine and Adenosine Are Toxic to Human Lymphoblast Mutants Defective in Purine Salvage Enzymes
1977 • 112 citations
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity
1973 • 111 citations
Adenosine kinase initiates the major route of ribavirin activation in a cultured human cell line.
1978 • 109 citations
Effect of DNA repair on the cytotoxicity and mutagenicity of polycyclic hydrocarbon derivatives in normal and xeroderma pigmentosum human fibroblasts
1977 • 109 citations
Serum triglycerides and serum uric acid in untreated and thiazide-treated patients with mild hypertension
1978 • 108 citations
RECONSTITUTION OF B AND T LYMPHOCYTE FUNCTION IN SEVERE COMBINED IMMUNODEFICIENCY DISEASE AFTER TRANSPLANTATION WITH THYMIC EPITHELIUM
1976 • 107 citations
Chinese Hamster Hypoxanthine-Guanine Phosphoribosyltransferase
1974 • 106 citations
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
1976 • 104 citations
Immunofluorescence Localization of Proteins of High Molecular Weight Along Intracellular Microtubules
1977 • 102 citations
Alternative Pathways of Deoxyadenosine and Adenosine Metabolism
1973 • 99 citations
Purification of human erythrocyte adenosine deaminase by affinity column chromatography.
1976 • 97 citations
Vectorial production of adenosine by 5'-nucleotidase in the perfused rat heart
1978 • 96 citations
Specificity of adenosine deaminase toward adenosine and 2′-deoxyadenosine analogues
1966 • 94 citations
Control of deoxyribonucleotide synthesis in vitro and in vivo
1972 • 94 citations
Heterogeneity of 5′-Nucleotidase Activity in Lymphocytes in Chronic Lymphocytic Leukemia
1973 • 94 citations
BLOCKAGE OF AMYLOID INDUCTION BY COLCHICINE IN AN ANIMAL MODEL
1974 • 93 citations
The identification of 2,8-dihydroxyadenine, a new component of urinary stones
1976 • 93 citations
Stimulation of human purine synthesis de novo by fructose infusion
1975 • 92 citations
Evidence that the Severity of Depletion of Inorganic Phosphate Determines the Severity of the Disturbance of Adenine Nucleotide Metabolism in the Liver and Renal Cortex of the Fructose-Loaded Rat
1978 • 88 citations
BIOCHEMICAL DIAGNOSIS OF AN X-LINKED DISEASE IN UTERO
1968 • 87 citations
Purification and characterization of human erythrocyte purine nucleoside phosphorylase and its subunits.
1978 • 87 citations
Analysis of adenosine-mediated pyrimidine starvation using cultured wild-type and mutant mouse T-lymphoma cells
1978 • 86 citations
Analysis of Adenosine and Other Adenine Compounds in Patients With Immunodeficiency Diseases
1978 • 86 citations
Localized Derepression on the Human Inactive X Chromosone in Mouse-Human Cell Hybrids.
1975 • 85 citations
SELF-MUTILATION IN LESCH-NYHAN SYNDROME
1974 • 84 citations
Analysis of HeLa cell hypoxanthine phosphoribosyltransferase mutants and revertants by two-dimensional polyacrylamide gel electrophoresis: evidence for silent gene activation.
1976 • 80 citations
Adenosine deaminase activity in normal tissues and tissues from a child with severe combined immunodeficiency and adenosine deaminase deficiency
1978 • 78 citations
Purification and subunit structure of adenosine deaminase from human kidney.
1977 • 78 citations
RELATION OF D.N.A. REPAIR PROCESSES TO PATHOLOGICAL AGEING OF THE NERVOUS SYSTEM IN XERODERMA PIGMENTOSUM
1976 • 78 citations
Purine Nucleoside Phosphorylase Deficiency
1977 • 76 citations
Increased purine nucleotides in adenosinedeaminase-deficient lymphocytes
1977 • 74 citations
Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.
1975 • 74 citations
Hereditary Severe Combined Immunodeficiency and Adenosine Deaminase Deficiency
1976 • 73 citations
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency
1970 • 73 citations
Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme.
1976 • 71 citations
Entrapment of metaphase chromosomes into phospholipid vesicles (lipochromosomes): Carrier potential in gene transfer
1978 • 71 citations
Prophylactic Effect of L-5-Hydroxytryptophan on Self-Mutilation in the Lesch-Nyhan Syndrome
1975 • 71 citations
Über familiäre gichtische Diathese in Verbindung mit zerebralen und renalen Symptomen bei einem Kleinkind1
1959 • 70 citations
Characterization of the residual adenosine deaminating activity in the spleen of a patient with combined immunodeficiency disease and adenosine deaminase deficiency
1978 • 66 citations
Partial Purine Nucleoside Phosphorylase Deficiency
1978 • 63 citations
Protein adsorption to monosodium urate, calcium pyrophosphate dihydrate, and silica crystals. Relationship to the pathogenesis of crystal-induced inflammation
1976 • 62 citations
Hyperuricemia in coronary, cerebral and peripheral arterial disease: An explanation
1975 • 60 citations
Adenine phosphoribosyltransferase: A simple spectrophotometric assay and the incidence of mutation in the normal population
1977 • 59 citations
SPECIFIC VASCULAR CHANGES IN GOUT
1954 • 59 citations
Human erythrocyte phosphoribosylpyrophosphate synthetase. Subunit analysis and states of subunit association.
1977 • 58 citations
The effect of external deoxyribonucleosides on deoxyribonucleoside triphosphate concentrations in human lymphocytes
1975 • 58 citations
Monoamine Oxidase Activity Decreased in Cells Lacking Hypoxanthine Phosphoribosyltransferase Activity
1976 • 58 citations
Demonstration of an adenosine receptor on human lymphocytes in vitro and its possible role in the adenosine deaminase-deficient form of severe combined immunodeficiency
1978 • 58 citations
Lead poisoning. Further observations on erythrocyte pyrimidine-nucleotidase deficiency and intracellular accumulation of pyrimidine nucleotides.
1977 • 58 citations
Effects of Drugs on Uric Acid in Man
1975 • 57 citations
Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome
1977 • 56 citations
Mutants of Chinese hamster cells resistant to adenosine
1975 • 53 citations
Chromosome-mediated gene transfer between closely realted strains of cultured mouse cells.
1976 • 53 citations
Studies on adenine and adenosine metabolism by intact human erythrocytes using high performance liquid chromatography
1976 • 52 citations
Human erythrocyte 5'-AMP aminohydrolase. Purification and characterization.
1978 • 52 citations
Purine Metabolism and Immunodeficiency: Urinary Purine Excretion as a Diagnostic Screening Test in Adenosine Deaminase and Purine Nucleoside Phosphorylase Deficiency
1978 • 51 citations
Phosphoribosylpyrophosphate Overproduction, a New Metabolic Abnormality in the Lesch Nyhan Syndrome
1975 • 49 citations
Serum uric acid levels in psoriatic arthritis.
1977 • 48 citations
A new form of nucleoside phosphorylase deficiency in two brothers with defective T-cell function
1978 • 48 citations
Limited effect of erythrocyte and plasma infusions in adenosine deaminase deficiency
1978 • 48 citations
Perifusion of Isolated Rat Adipose Cells
1977 • 48 citations
Monoamine oxidase and catechol-O-methyltransferase activities in cultured human skin fibroblasts
1976 • 48 citations
Passive avoidance learning in Lesch-Nyhan disease: Effect of 1-desamino-8-arginine-vasopressin
1979 • 47 citations
Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.
1979 • 46 citations
MONOAMINE OXIDASE ACTIVITY IN NORMAL and LESCH‐NYHAN FIBROBLASTS
1978 • 46 citations
MONOAMINE OXIDASE A AND B IN CULTURED CELLS
1978 • 45 citations
Reexpression of the Rat Hypoxanthine Phosphoribosyltransferase Gene in Rat-Human Hybrids
1973 • 45 citations
Clinical evaluation of benzbromarone. A new uricosuric drug
1976 • 45 citations
Restoration of Hypoxanthine Phosphoribosyl Transferase Activity in Mouse 1R Cells After Fusion with Chick-Embryo Fibroblasts
1973 • 44 citations
Acute gouty arthritis without urate crystals identified on initial examination of synovial fluid
1975 • 44 citations
Brief Communication: Xeroderma Pigmentosum Long-Term Lymphoid Lines With Increased Ultraviolet Sensitivity
1974 • 44 citations
Multicentre trial of naproxen and phenylbutazone in acute gout.
1977 • 44 citations
Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.
1975 • 42 citations
Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase
1978 • 42 citations
Clinical Study of Ticrynafen
1977 • 42 citations
The Thermogravimetric Analysis of Renal Stones (in clinical practice)
1976 • 42 citations
Phalangeal Metastases From Bronchogenic Carcinoma
1978 • 41 citations
Subunit Molecular Weight of Human Hypoxanthine-Guanine Phosphoribosyltransferase
1974 • 40 citations
On the existence of a guanine nucleotide trap, the role of adenosine kinase and a possible cause of excessive purine production in mammalian cells
1972 • 40 citations
The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I
1977 • 40 citations
Renal transport of urate during diuretic-induced hypouricemia
1976 • 39 citations
Double-blind clinical trial of 5-hydroxytryptophan in a case of Lesch-Nyhan syndrome.
1976 • 39 citations
Panniculitis of the Legs With Urate Crystal Deposition
1977 • 38 citations
Suppression of Uric Acid Secretion in a Patient with Renal Hypouricemia
1974 • 37 citations
The use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome
1976 • 37 citations
Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.
1975 • 36 citations
Transport of a nonphosphorylated nucleoside, 5'-deoxyadenosine, by murine leukemia L1210 cells.
1978 • 36 citations
Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome
1976 • 35 citations
Purine Dysfunction in Cells from Patients with Adenosine Deaminase Deficiency
1976 • 35 citations
Recent Advances in Endocrinology and Metabolism
1979 • 35 citations
Activation of Variants of Hypoxanthine-Guanine Phosphoribosyl Transferase by the Normal Enzyme
1972 • 34 citations
Punishment learning and self-mutilation in Lesch–Nyhan disease
1977 • 34 citations
Growth and Development of Rheumatology in the United States—A Bicentennial Report
1977 • 34 citations
Purification and properties of human erythrocyte pyrimidine 5'-nucleotidase.
1977 • 33 citations
Gout in the Maoris
1975 • 33 citations
Metabolism by Man of Intravenously Administered Adenine
1977 • 33 citations
Adsorption of polymorphonuclear leukocyte lysosomal enzymes to monosodium urate crystals
1977 • 33 citations
Inhibition of Mitogen Mediated Lymphocyte Blastogenesis by Adenosine
1975 • 33 citations
Regulation of purine biosynthesis and turnover
1976 • 32 citations
Neonatal hyperuricemia
1976 • 32 citations
Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.
1977 • 31 citations
Mammalian Deoxynucleoside Kinases
1971 • 31 citations
Purine nucleoside phosphorylase, a possible histochemical marker for T-cells in man
1977 • 29 citations
Tryptic peptide analysis of normal and mutant forms of hypoxanthine phosphoribosyltransferase from HeLa cells.
1977 • 29 citations
Screening for ADA deficiency
1974 • 27 citations
Current concepts on the regulation of purine biosynthesis de novo in man
1975 • 27 citations
Effect of fenoprofen calcium on acute gouty arthritis
1976 • 26 citations
The influence of allopurinol on renal function in gout
1975 • 25 citations
Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine‐guanine phosphoribosyltransferase gene
1976 • 25 citations
Cellular immunodeficiency associated with nucleoside phosphorylase deficiency
1977 • 24 citations
Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase
1977 • 23 citations
Hypouricemia
1975 • 22 citations
Three cases of hereditary hemolytic anemia with pyrimidine 5?-nucleotidase deficiency in a Japanese family
1977 • 22 citations
Thyrotropin-releasing hormone modulation of uridine uptake in rat pituitary cells. Evidence that uridine phosphorylation is regulated.
1978 • 21 citations
Some regulatory properties of purine biosynthesis de novo in long-term cultures of epithelial-like rat liver cells
1978 • 21 citations
Purine reutilization in phytohemagglutinin-stimulated human T-lymphocytes
1978 • 21 citations
The Effect of Adenosine on Lymphoid Cell Proliferation and Antibody Formation
1977 • 20 citations
Metabolism by the Rabbit of Intravenously Administered Adenine
1977 • 20 citations
Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase.
1978 • 20 citations
Pharmacologic Approach to the Maintenance of Urate Homeostasis
1975 • 19 citations
Evidence for X-Linkage of Phosphoribosylpyrophosphate Synthetase in Man
1977 • 19 citations
Possible urate nephropathy of the newborn infant as a cause of transient renal insufficiency
1977 • 19 citations
Studies of the Relationship between Adenosine Deaminase and Immune Function
1977 • 19 citations
A continuous spectrophotometric assay for hypoxanthine-guanine phosphoribosyltransferase
1977 • 18 citations
Evidence for a 5'-nucleotidase in human leukemic leukocytes
1973 • 18 citations
Lesch-Nyhan Syndrome: The Synthesis of Inosine 5′-Phosphate in the Hypoxanthine-Guanine Phosphoribosyltransferase-deficient Erythrocyte by Alternate Biochemical Pathways
1977 • 17 citations
Enzymes of Ammonia Detoxication after Portacaval Shunt in the Rat
1977 • 17 citations
Uric acid catabolism in the woolly monkey
1976 • 17 citations
Abnormalities of PRPP Metabolism Leading to an Overproduction of Uric Acid
1978 • 16 citations
Biology of radiation carcinogenesis
1977 • 15 citations
A new ultramicrochemical assay for purine nucleoside phosphorylase
1978 • 15 citations
Phosphoribosylpyrophosphate Synthesis in Cultured Human Cells
1977 • 15 citations
Complementing xeroderma pigmentosum fibroblasts restore biological activity to UV-damaged DNA
1975 • 14 citations
The Prenatal Diagnosis of Genetic Disorders
1978 • 14 citations
The relation of endogenous adenosine cyclic 3′:5′‐monophosphate to the antagonistic effects of adenosine and colchicine on cell shape
1975 • 13 citations
Lymphocyte Enzyme Deficiencies and The Metabolic Basis of Immunodeficiency Disease
1977 • 13 citations
A Xanthine Stone in a Xanthinuric Boy: A Biochemical Case Study
1977 • 13 citations
Oxonate-Induced Hyperuricemia and Orotic Aciduria in Mice
1978 • 13 citations
Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity
1978 • 13 citations
Adenine Phosphoribosyltransferase Deficiency Presenting with Supposed ‘Uric Acid’ Stones: Pitfalls of Diagnosis1
1978 • 13 citations
Formation of oxyadenine metabolites in the rabbit after intravenous administration of adenine
1977 • 13 citations
Molecular Nature of Enzyme Regulation in Purine Biosynthesis
1977 • 13 citations
Ibuprofen in acute polyarticular gout
1976 • 13 citations
Hypoxanthine-guanine phosphoribosyltransferase: A simple spectrophotometric assay
1977 • 12 citations
Advances in enzyme regulation vol. 33
1994 • 12 citations
Incorporation of purine nucleosides in cultured fibroblasts from a patient with purine nucleoside phosphorylase deficiency and associated T‐cell immunodeficiency
1977 • 12 citations
Overproduction Disease in Man due to Enzyme Feedback Resistance Mutation
1978 • 12 citations
Occurrence of Gout in Copenhagen Males Aged 40–59
1976 • 12 citations
The gouty kidney
1977 • 12 citations
Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes
1977 • 11 citations
A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome*
1976 • 10 citations
Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods
1977 • 10 citations
Prolonged hypouricemia associated with acute chlorprothixene ingestion
1975 • 10 citations
Disorders of Purine and Pyrimidine Metabolism
1978 • 9 citations
Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.
1977 • 9 citations
A spectrophotometric assay for phosphoribosylpyrophosphate synthetase
1978 • 9 citations
Use of the integrated steady state rate equation to investigate product inhibition of human red cell adenosine deaminase and its relevance to immune dysfunction.
1978 • 9 citations
ELEVATED INTRACELLULAR GLYCINE ASSOCIATED WITH HYPOXANTHINE‐GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN GLIOMA CELLS1
1977 • 9 citations
Current Therapy of Gout and Hyperuricemia
1976 • 9 citations
Effect of 6-mercaptopurine on inosinic acid dehydrogenase in cultured human fibroblasts
1976 • 8 citations
Genetic heterogeneity of hypoxanthine‐phosphoribosyl transferase in human fibroblasts of 3 families*
1977 • 7 citations
Genetic Heterogeneity at the Locus for Hypoxanthine‒Guanine Phosphoribosyltransferase
1977 • 6 citations
Increase in uric acid biosynthesis produced by 2‐substituted thiadiazoles
1965 • 6 citations
Punktatdiagnostik von Gicht und Pseudogicht
1976 • 6 citations
The incorporation of homologous and heterologous hypoxanthine-guanine phosphoribosyltransferase into mutant cells
1978 • 6 citations
An analysis of the bidirectional transport of uric acid by the human nephron
1975 • 5 citations
Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I
1978 • 5 citations
Allopurinol Toxicity Masquerading as Malignancy
1978 • 5 citations
Kidney in Patients with Abnormalities in Uric Acid Metabolism
2015 • 5 citations
Inborn Errors of Purine and Pyrimidine Metabolism
1976 • 5 citations
Adenosine deaminase deficiency: enzyme replacement therapy and investigations of the biochemical basis of immunodeficiency
1979 • 5 citations
Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome.
1977 • 5 citations
REGULATION OF HUMAN GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE BY INTERCONVERSION OF TWO FORMS OF THE ENZYME
1975 • 4 citations
Transfer of Resistance to Selective Conditions from Fibroblasts with Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase to Normal Cells
1977 • 4 citations
Metro a Ogryzlo, 1915–1977
1977 • 4 citations
The man-made mouse
1978 • 3 citations
TISSUE ADENOSINE DEAMINASE ACTIVITY IN AN ADENOSINE DEFICIENT-COMBINED IMMUNODEFICIENCY DISEASE PATIENT
1977 • 3 citations
Disorders of Purine and Pyrimidine Metabolism
1976 • 3 citations
Xanthinuria, Lithiasis and Gout in the Same Family
1977 • 3 citations
Foibles and Fallacies in the Diagnosis of Arthritis
1977 • 2 citations
Hairy legs.
1976 • 2 citations
Allopurinol-induced xanthine lithiasis in a patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase
1978 • 2 citations
Recurrent Gouty Phlebitis without Articular Gout
1977 • 2 citations
HGPRT in the Gilles de la Tourette Syndrome
1977 • 2 citations
Purine Biosynthesis in Mutant Mammalian Cells
1977 • 1 citations