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Disorders of Purine and Pyrimidine Metabolism

Data up to Jan 2025

Published1979
Citations6
References240

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

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