Disorders of Purine and Pyrimidine Metabolism

High resolution two-dimensional electrophoresis of proteins.

1975 • 19,515 citations

The Metabolic Basis of Inherited Disease.

1988 • 7,933 citations

Defective Repair Replication of DNA in Xeroderma Pigmentosum

1968 • 1,739 citations

Inhibition of Rous sarcoma virus replication and cell transformation by a specific oligodeoxynucleotide.

1978 • 1,668 citations

ADENOSINE-DEAMINASE DEFICIENCY IN TWO PATIENTS WITH SEVERELY IMPAIRED CELLULAR IMMUNITY

1972 • 1,654 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

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

1967 • 1,210 citations

Normal genetically mosaic mice produced from malignant teratocarcinoma cells.

1975 • 1,175 citations

Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X-Linked Phenotypes.

1967 • 1,002 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

ROLE OF SUPPRESSOR T CELLS IN PATHOGENESIS OF COMMON VARIABLE HYPOGAMMAGLOBULINÆMIA

1974 • 717 citations

UNIVERSITY OF CALIFORNIA

1948 • 554 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

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

1969 • 452 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

CONGENITAL HYDRONEPHROSIS AND HYDRO-URETER WITH CONTRALATERAL PAIN

1949 • 386 citations

Tight-binding inhibitors—IV. Inhibition of adenosine deaminases by various inhibitors

1977 • 376 citations

New method for mapping genes in human chromosomes

1975 • 356 citations

The Mechanism of Action of Inhibitors of DNA Synthesis

1977 • 330 citations

Human adenosine deaminase. Distribution and properties.

1976 • 329 citations

FRUCTOSE-INDUCED HYPERURICÆMIA

1970 • 327 citations

Treated and Untreated Recurrent Calcium Nephrolithiasis in Patients with Idiopathic Hypercalciuria, Hyperuricosuria, or No Metabolic Disorder

1977 • 317 citations

Enzyme inhibitors. 26. Bridging hydrophobic and hydrophilic regions on adenosine deaminase with some 9-(2-hydroxy-3-alkyl)adenines

1974 • 298 citations

CHLORPROPAMIDE HYPOGLYCqMIA

1973 • 279 citations

Identification and quantitation of adenine deoxynucleotides in erythrocytes of a patient with adenosine deaminase deficiency and severe combined immunodeficiency.

1978 • 277 citations

Selection of a Variant Lymphoma Cell Deficient in Adenylate Cyclase

1975 • 276 citations

Pseudohypoparathyroidism Type II: A Possible Defect in the Reception of the Cyclic AMP Signal

1973 • 274 citations

Pyrimidine Starvation Induced by Adenosine in Fibroblasts and Lymphoid Cells: Role of Adenosine Deaminase

1973 • 271 citations

Hereditary Hemolytic Anemia with Human Erythrocyte Pyrimidine 5′-Nucleotidase Deficiency

1974 • 269 citations

Presence of diadenosine 5',5''' -P1, P4-tetraphosphate (Ap4A) in mamalian cells in levels varying widely with proliferative activity of the tissue: a possible positive "pleiotypic activator".

1976 • 269 citations

Role of S-adenosylhomocysteine in adenosine-mediated toxicity in cultured mouse T lymphoma cells

1977 • 267 citations

Adenosine Inhibition of Lymphocyte-Mediated Cytolysis: Possible Role of Cyclic Adenosine Monophosphate

1975 • 265 citations

Combined immunodeficiency disease associated with adenosine deaminase deficiency

1975 • 255 citations

Inhibition of Influenza Virus Ribonucleic Acid Polymerase by Ribavirin Triphosphate

1977 • 253 citations

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

1968 • 251 citations

Severe Combined Immunodeficiency and Adenosine Deaminase Deficiency

1975 • 251 citations

Enzyme Replacement Therapy for Adenosine Deaminase Deficiency and Severe Combined Immunodeficiency

1976 • 249 citations

Lethality of adenosine for cultured mammalian cells by interference with pyrimidine biosynthesis

1973 • 248 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

Continuous Nocturnal Intragastric Feeding for Management of Type 1 Glycogen-Storage Disease

1976 • 231 citations

Suppression of B-cell differentiation by leukocytes from hypogammaglobulinemic patients.

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

Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype

1969 • 215 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

Role of adenosine deaminase in lymphocyte proliferation.

1976 • 205 citations

Adenosine deaminase from human erythrocytes: Purification and effects of adenosine analogs

1975 • 204 citations

Overproduction of adenine deoxynucleosides and deoxynucletides in adenosine deaminase deficiency with severe combined immunodeficiency disease.

1978 • 200 citations

Five complementation groups in xeroderma pigmentosum

1975 • 199 citations

Purine Nucleoside Phosphorylase Deficiency Associated with Selective Cellular Immunodeficiency

1977 • 197 citations

Induction of erythroid differentiation in vitro by purines and purine analogues

1976 • 186 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

Abnormal Purine Metabolism and Purine Overproduction in a Patient Deficient in Purine Nucleoside Phosphorylase

1976 • 175 citations

An evaluation of the pathogenesis of the gouty kidney

1975 • 174 citations

Hereditary Hemolytic Anemia with Increased Red Cell Adenosine Deaminase (45- to 70-fold) and Decreased Adenosine Triphosphate

1977 • 171 citations

Biochemistry of Uric Acid and Its Relation to Gout

1963 • 170 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

Duncan's Diseases of Metabolism,

1975 • 165 citations

Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man

1968 • 164 citations

The spontaneous azaguanine-resistant mutants of diploid human fibroblasts

1972 • 161 citations

Purine metabolism in adenosine deaminase deficiency.

1976 • 160 citations

Adenosine deaminase activity in thymus and other human tissues.

1976 • 159 citations

Effect of Cyclic 3',5'-Adenosine Monophosphate and Theophylline on Lymphocyte Transformation

1970 • 157 citations

A role for adenosine deaminase in human monocyte maturation.

1976 • 157 citations

Human adenosine deaminase. Purification and subunit structure.

1977 • 154 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

Allopurinol: Alteration in Pyrimidine Metabolism in Man

1970 • 151 citations

Behavior in the Lesch-Nyhan syndrome

1976 • 151 citations

Intrarenal dynamics in the pathogenesis and prevention of acute urate nephropathy.

1977 • 150 citations

Renal function in gout

1975 • 149 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

Suppressor cells in the regulation of the immune response.

1977 • 144 citations

A study of the tissue distribution of adenosine deaminase in six mammal species

1965 • 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

IMMUNOLOGICAL OBSERVATIONS ON PATENTS WITH LESCH-NYHAN SYNDROME, AND ON THE ROLE OF DE-NOVO PURINE SYNTHESIS IN LYMPHOCYTE TRANSFORMATION

1975 • 143 citations

Aggression and emotional development.

1948 • 141 citations

Chemical Mutagenesis at the Phosphoribosyltransferase Locus in Cultured Human Lymphoblasts

1972 • 140 citations

Membrane Transport of Purine and Pyrimidine Bases and Nucleosides in Animal Cells

1975 • 138 citations

Studies on the lymphocyte 5'-nucleotidase in chronic lymphocytic leukemia, infectious mononucleosis, normal subpopulations, and phytohemagglutinin-stimulated cells.

1974 • 137 citations

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

1975 • 136 citations

Effects of low-level lead exposure on pyrimidine 5'-nucleotidase and other erythrocyte enzymes. Possible role of pyrimidine 5'-nucleotidase in the pathogenesis of lead-induced anemia.

1975 • 134 citations

LYMPHOCYTE PURINE 5'-NUCLEOTIDASE DEFICIENCY IN PRIMARY HYPOGAMMAGLOBULINÆMIA

1977 • 134 citations

Phosphorylation state of cytosolic and mitochondrial adenine nucleotides and of pyruvate dehydrogenase in isolated rat liver cells

1976 • 133 citations

Human Glutamine Phosphoribosylpyrophosphate Amidotransferase

1973 • 133 citations

ADENOSINE-DEAMINASE DEFICIENCY AND COMBINED IMMUNODEFICIENCY SYNDROME

1972 • 133 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

Evidence for X-Linked Dominant Inheritance of Ornithine Transcarbamylase Deficiency

1973 • 128 citations

Orotidinuria Induced by Allopurinol

1970 • 128 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

Consequences of inhibition of guanine nucleotide synthesis by mycophenolic acid and virazole.

1977 • 125 citations

Human Hypoxanthine-Guanine Phosphoribosyltransferase

1971 • 125 citations

Assignment of the Gene for Adenine Phosphoribosyltransferase to Human Chromosome 16 by Mouse-Human Somatic Cell Hybridization

1974 • 123 citations

Characteristics of a pyrimidine-specific 5'-nucleotidase in human erythrocytes.

1975 • 122 citations

A ROLE FOR PURINE METABOLISM IN THE IMMUNE RESPONSE: ADENOSINE-DEAMINASE ACTIVITY AND DEOXYADENOSINE CATABOLISM

1978 • 121 citations

Clinical, physiological and biochemical studies of a patient with xanthinuria and pheochromocytoma

1964 • 118 citations

The chondro-osseous dysplasia of adenosine deaminase deficiency with severe combined immunodeficiency

1976 • 116 citations

Monosodium urate monohydrate, the gout culprit

1976 • 115 citations

LYON HYPOTHESIS AND X-LINKED DISEASE

1967 • 114 citations

Purine nucleotide cycle. Evidence for the occurrence of the cycle in brain.

1976 • 113 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

Glutathione Reductase: Stimulation in Normal Subjects by Riboflavin Supplementation

1969 • 110 citations

Selective Degradation of Abnormal Proteins in Mammalian Tissue Culture Cells

1974 • 109 citations

The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

1976 • 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

Adenosine kinase initiates the major route of ribavirin activation in a cultured human cell line.

1978 • 109 citations

Lead poisoning: association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5'-nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines.

1976 • 108 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

Inhibition of maturation of human precursor lymphocytes by coformycin, and inhibitor of the enzyme adenosine deaminase

1976 • 107 citations

The Spectrum of Hypoxanthine-guanine Phosphoribosyltransferase Deficiency

1973 • 107 citations

Chinese Hamster Hypoxanthine-Guanine Phosphoribosyltransferase

1974 • 106 citations

ADENOSINE-DEAMINASE DEFICIENCY IN A CHILD DIAGNOSED PRENATALLY

1975 • 106 citations

Molecular form of adenosine deaminase in severe combined immunodeficiency

1974 • 105 citations

Multiple forms of human adenosine deaminase

1972 • 105 citations

Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.

1976 • 104 citations

Studies on a pyrimidine phosphoribosyltransferase from murine leukemia P1534J. Partial purification, substrate specificity, and evidence for its existence as a bifunctional complex with orotidine 5-phosphate decarboxylase.

1975 • 104 citations

Studies on the coordinate activity and lability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration

1971 • 104 citations

Isoprinosine augmentation of phytohemagglutinin-induced lymphocyte proliferation

1976 • 103 citations

Immunofluorescence Localization of Proteins of High Molecular Weight Along Intracellular Microtubules

1977 • 102 citations

Two carbamyl phosphate synthetases of mammals: Specific roles in control of pyrimidine and urea biosynthesis

1972 • 101 citations

Alternative Pathways of Deoxyadenosine and Adenosine Metabolism

1973 • 99 citations

Partial purification and properties of the common inherited forms of adenosine deaminase from human erythrocytes

1973 • 99 citations

Gout and Hyperuricemia.

1977 • 98 citations

Advances in Human Genetics 8

1977 • 98 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

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.

1977 • 96 citations

Correlates and Consequences of Asymptomatic Hyperuricemia

1973 • 95 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

Hypouricemia due to isolated renal tubular defect

1972 • 93 citations

Benzbromarone

1977 • 93 citations

A new disorder of purine metabolism with behavioral manifestations

1969 • 93 citations

The identification of 2,8-dihydroxyadenine, a new component of urinary stones

1976 • 93 citations

BLOCKAGE OF AMYLOID INDUCTION BY COLCHICINE IN AN ANIMAL MODEL

1974 • 93 citations

Stimulation of human purine synthesis de novo by fructose infusion

1975 • 92 citations

HEREDITARY OROTIC ACIDURIA

1970 • 91 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

SUCCESSFUL FETAL LIVER TRANSPLANTATION IN A CHILD WITH SEVERE COMBINED IMMUNODEFICIENCY

1975 • 87 citations

Purification and characterization of human erythrocyte purine nucleoside phosphorylase and its subunits.

1978 • 87 citations

The Role of de novo Purine Synthesis in Lymphocyte Transformation

1977 • 87 citations

Regulation of purine biosynthesis in cultured human cells

1970 • 87 citations

BIOCHEMICAL DIAGNOSIS OF AN X-LINKED DISEASE IN UTERO

1968 • 87 citations

Human Phosphoribosylpyrophosphate Synthetase: Increased Enzyme Specific Activity in a Family with Gout and Excessive Purine Synthesis

1973 • 86 citations

Enhancement of the biological activity of cordycepin (3'-deoxyadenosine) by the adenosine deaminase inhibitor 2'-deoxycoformycin

1976 • 86 citations

Analysis of Adenosine and Other Adenine Compounds in Patients With Immunodeficiency Diseases

1978 • 86 citations

Metabolic and Genetic Studies of a Family with Ornithine Transcarbamylase Deficiency

1974 • 86 citations

Analysis of adenosine-mediated pyrimidine starvation using cultured wild-type and mutant mouse T-lymphoma cells

1978 • 86 citations

A Review: Biological and Clinical Aspects of Pyrimidine Metabolism

1974 • 85 citations

Combined Immunodeficiency Disease and Adenosine Deaminase Deficiency. A Molecular Defect

1976 • 85 citations

Localized Derepression on the Human Inactive X Chromosone in Mouse-Human Cell Hybrids.

1975 • 85 citations

Purine nucleoside metabolism in the erythrocytes of patients with adenosine deaminase deficiency and severe combined immunodeficiency.

1976 • 84 citations

SELF-MUTILATION IN LESCH-NYHAN SYNDROME

1974 • 84 citations

Effects of orotic acid on purine and lipoprotein metabolism in man

1970 • 82 citations

BLOOD COAGULATION AND PLATELET ECONOMY IN SUBJECTS WITH PRIMARY GOUT.

1963 • 81 citations

Properties of 5-Phosphoribosyl-1-pyrophosphate Amidotransferase from Human Lymphoblasts

1973 • 81 citations

Analysis of HeLa cell hypoxanthine phosphoribosyltransferase mutants and revertants by two-dimensional polyacrylamide gel electrophoresis: evidence for silent gene activation.

1976 • 80 citations

Regulation of de novo purine biosynthesis in human lymphoblasts. Coordinate control of proximal (rate-determining) steps and the inosinic acid branch point.

1976 • 80 citations

Intracellular immunoglobulin production in vitro by lymphocytes from patients with hypogammaglobulinaemia and their effect on normal lymphocytes.

1976 • 80 citations

The Pathogenesis of Podagra

1977 • 79 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

Conversion of human erythrocyte-adenosine deaminase activity to different tissue-specific isozymes. Evidence for a common catalytic unit.

1975 • 77 citations

Purines: supply by liver to tissues

1970 • 77 citations

Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.

1975 • 76 citations

Purine Nucleoside Phosphorylase Deficiency

1977 • 76 citations

Regulation of adenylate cyclase from cultured human cell lines by adenosine.

1976 • 76 citations

Deficiency of adenosine deaminase not associated with severe combined immunodeficiency

1976 • 76 citations

Variations in purine metabolism of cultured skin fibroblasts from patients with gout

1968 • 74 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

Benign symmetric lipomatosis (launois-bensaude adenolipomatosis) with gout and hyperlipoproteinemia

1970 • 73 citations

Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency

1970 • 73 citations

Association of autoimmunity, immunodeficiency and aging in man, rabbits, and mice.

1974 • 72 citations

The structural basis of crystal-induced membranolysis

1976 • 72 citations

Purine metabolism in lymphocytes from patients with primary hypogammaglobulinaemia.

1978 • 72 citations

Combined (B- and T-lymphocyte) immunodeficiency: a fatal genetic disease in Arabian foals.

1974 • 72 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

Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme.

1976 • 71 citations

Gout and Uric Acid Metabolism.

1977 • 71 citations

Purine excretion by mammalian cells deficient in adenosine kinase

1973 • 70 citations

Über familiäre gichtische Diathese in Verbindung mit zerebralen und renalen Symptomen bei einem Kleinkind¹

1959 • 70 citations

Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis

1970 • 70 citations

Detection of the Carrier State in Combined Immunodeficiency Disease Associated with Adenosine Deaminase Deficiency

1974 • 69 citations

THE URICOSURIA AND OROTIC ACIDURIA INDUCED BY 6-AZAURIDINE*

1961 • 68 citations

Aggregation of Human Platelets by Bovine or Human Factor VIII: Role of Carbohydrate Side Chains

1973 • 68 citations

Absence of erythrocyte adenosine deaminase associated with severe combined immunodeficiency

1974 • 67 citations

Effects of nicotinic acid on human fibroblast purine biosynthesis

1972 • 67 citations

The effect of cyclic nucleotides on purine biosynthesis and the induction of PRPP synthetase during lymphocyte activation

1974 • 67 citations

Inhibition of phosphoribosylpyrophosphate synthesis by purine nucleosides in human erythrocytes.

1976 • 67 citations

Urate crystal-induced chemotactic factor: isolation and partial characterization.

1976 • 66 citations

Enhancement of the Biological Activity of Adenosine Analogs by the Adenosine Deaminase Inhibitor 2’-Deoxycoformycin

1977 • 66 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

ADENOSINE DEAMINASE ACTIVITY IN LYMPHOID CELLS DURING ANTIBODY PRODUCTION

1963 • 66 citations

Human erythrocyte phosphoribosylpyrophosphate synthetase. Dependence of activity on state of subunit association.

1977 • 65 citations

Uptake and supply of purine compounds by the liver

1975 • 65 citations

A simple rapid radiometric assay for pyrimidine-5'-nucleotidase.

1977 • 65 citations

Methods for the study of purine metabolism in human cells in vitro

1974 • 64 citations

A new variant of maple syrup urine disease (branched chain ketoaciduria)

1970 • 63 citations

Partial Purine Nucleoside Phosphorylase Deficiency

1978 • 63 citations

Group translocation of the ribose moiety of inosine by vesicles of plasma membrane from T(3 cells transformed by Simian virus 40.

1976 • 63 citations

Genetic studies of human erythrocyte inosine triphosphatase

1969 • 63 citations

Purification and characterization of adenosine-adenosine cyclic 3',5'-monophosphate binding protein factors from rabbit erythrocytes

1974 • 62 citations

Protein adsorption to monosodium urate, calcium pyrophosphate dihydrate, and silica crystals. Relationship to the pathogenesis of crystal-induced inflammation

1976 • 62 citations

Heterogeneity of lymphocyte subpopulations in severe combined immunodeficiency. Evidence against a stem cell defect.

1976 • 61 citations

A micropuncture study of the early phase of acute urate nephropathy.

1976 • 61 citations

Hyperuricemia in coronary, cerebral and peripheral arterial disease: An explanation

1975 • 60 citations

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

1972 • 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

Glutathione Reductase in Red Blood Cells: Variant Associated with Gout

1967 • 59 citations

Lethal Neonatal Deficiency of Carbamyl Phosphate Synthetase

1974 • 59 citations

The adenosine‐like effect of exogenous cyclic AMP upon nucleotide and PP‐ribose‐P concentrations of cultured human lymphoblasts

1976 • 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

The purine nucleotide cycle. A pathway for ammonia production in the rat kidney.

1976 • 58 citations

Human erythrocyte phosphoribosylpyrophosphate synthetase. Subunit analysis and states of subunit association.

1977 • 58 citations

Effects of Drugs on Uric Acid in Man

1975 • 57 citations

Orotic aciduria

1969 • 56 citations

The Formation of Adenosine in Rabbit Liver and Its Possible Role as a Direct Precursor of Erythrocyte Adenine Nucleotides

1974 • 56 citations

Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme

1977 • 56 citations

Purine Phosphoribosyltransferase in Gilles de la Tourette Syndrome

1977 • 56 citations

Cytotoxic and metabolic effects of adenosine and adenine on human lymphoblasts.

1978 • 55 citations

Hypouricemia, Hypercalciuria, and Decreased Bone Density: A Hereditary Syndrome

1974 • 55 citations

Bullous tophi in gout.

1977 • 55 citations

Effects of concanavalin A and a succinylated derivative on lymphocyte proliferation and cyclic nucleotide levels.

1976 • 55 citations

De novo synthesis of purine nucleotides in human peripheral blood leukocytes. Excessive activity of the pathway in hypoxanthine-guanine phosphoribosyltransferase deficiency.

1976 • 55 citations

Developmental changes in purine phosphoribosyltransferases in human and rat tissues

1976 • 54 citations

The Pharmacology of the Hypouricemic Effect of Benzbromarone

1977 • 54 citations

Lesch-Nyhan Syndrome: Evidence for Abnormal Adrenergic Function

1974 • 54 citations

Uridine monophosphate kinase: A new genetic polymorphism with possible clinical implications.

1974 • 53 citations

Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates

1973 • 53 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

Adenine phosphoribosyltransferase deficiency in man

1973 • 53 citations

Alterations in isozymes of adenosine deaminase during stimulation of human peripheral blood lymphocytes

1974 • 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

Sparing effect of hemiplegia on tophaceous gout.

1976 • 51 citations

Heterogeneity for adenosine deaminase deficiency: Expression of the enzyme in cultured skin fibroblasts and amniotic fluid cells.

1975 • 51 citations

Arginine Deficiency and Orotic Aciduria in Mammals

1975 • 50 citations

Effect of allopurinol and its metabolic derivatives on the configuration of human orotate phosphoribosyltransferase and orotidine 5'-phosphate decarboxylase

1975 • 50 citations

Phosphoribosylpyrophosphate Overproduction, a New Metabolic Abnormality in the Lesch Nyhan Syndrome

1975 • 49 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

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

Monomeric purine nucleoside phosphorylase from rabbit liver. Purification and characterization.

1976 • 48 citations

Serum uric acid levels in psoriatic arthritis.

1977 • 48 citations

Ultraviolet light-induced sister chromatid exchanges in xeroderma pigmentosum and in Cockayne's syndrome lymphocyte cell lines.

1978 • 48 citations

Some unusual features of gouty arthritis in females

1977 • 47 citations

Measurement of free nucleotides in cultured human lymphoid cells using high pressure liquid chromatography

1977 • 47 citations

TRICYCLIC ANTIDEPRESSANT POISONING IN CHILDREN

1979 • 47 citations

Passive avoidance learning in Lesch-Nyhan disease: Effect of 1-desamino-8-arginine-vasopressin

1979 • 47 citations

Expression of Purine Overproduction in a Series of 8-Azaguanine-Resistant Diploid Human Lymphoblast Lines

1974 • 47 citations

Chinese hamster purine-nucleoside phosphorylase: purification, structural, and catalytic properties

1976 • 47 citations

Effects of 2-amino-1,3,4-thiadiazole on ribonucleotide pools of leukemia L1210 cells.

1976 • 46 citations

MONOAMINE OXIDASE ACTIVITY IN NORMAL and LESCH‐NYHAN FIBROBLASTS

1978 • 46 citations

Mechanism of action of 2-amino-1,3,4-thiadiazole (NSC 4728).

1977 • 46 citations

Gouty Arthritis and Polycystic Kidney Disease

1973 • 46 citations

Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child.

1979 • 46 citations

Clinical evaluation of benzbromarone. A new uricosuric drug

1976 • 45 citations

Ribavirin: Efficacy in the Treatment of Murine Autoimmune Disease

1977 • 45 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

Partial Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase: Intermediate Enzyme Deficiency in Heterozygote Red Cells

1972 • 44 citations

Studies of the quaternary structure and the chemical properties of phosphoribosylpyrophosphate synthetase from Salmonella typhimurium.

1975 • 44 citations

Multicentre trial of naproxen and phenylbutazone in acute gout.

1977 • 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

Deoxyadenosine metabolism and toxicity in cultured L5178Y cells.

1977 • 44 citations

Human hypoxanthine phosphoribosyltransferase. Purification and properties

1977 • 44 citations

Restoration of Hypoxanthine Phosphoribosyl Transferase Activity in Mouse 1R Cells After Fusion with Chick-Embryo Fibroblasts

1973 • 44 citations

Incorporation of adenosine into ATP: formation of compartmentalized ATP.

1976 • 43 citations

Hyperuricemia and Neurologic Deficits

1970 • 43 citations

Selective inhibition of pyrimidine biosynthesis and effect on proliferative growth of colonic cancer cells.

1977 • 43 citations

Gout as a Complication of Bartter's Syndrome

1975 • 43 citations

Hypoxanthine-guanine phosphoribosyl transferase deficiency

1976 • 42 citations

Child's Urinary Lithiasis Revealing a Complete Deficit in Adenine Phosphoribosyl Transferase

1976 • 42 citations

The Thermogravimetric Analysis of Renal Stones (in clinical practice)

1976 • 42 citations

Clinical Study of Ticrynafen

1977 • 42 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

Hypouricemic, Mentally Retarded Infant with a Defect of 5-Phosphoribosyl-1-pyrophophate Synthetase of Erythrocytes

1974 • 42 citations

The epitaxially induced crystal growth of calcium oxalate by crystalline uric acid.

1976 • 41 citations

Lesch-Nyhan Syndrome: Low Dopamine-β-Hydroxylase Activity and Diminished Sympathetic Response to Stress and Posture

1977 • 41 citations

Phalangeal Metastases From Bronchogenic Carcinoma

1978 • 41 citations

The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I

1977 • 40 citations

[A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine].

1974 • 40 citations

Subunit Molecular Weight of Human Hypoxanthine-Guanine Phosphoribosyltransferase

1974 • 40 citations

The antileukemic action of two thiadiazole derivatives.

1960 • 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

Control of Pyrimidine Biosynthesis in Human Lymphocytes

1973 • 40 citations

Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase

1973 • 40 citations

Conditional lethal mutants of Chinese hamster cells: Mutants requiring exogenous carbondioxide for growth

1974 • 39 citations

A normal level of adenosine deaminase activity in the red cell lysates of carriers and patients with severe combined immunodeficiency disease.

1976 • 39 citations

Double-blind clinical trial of 5-hydroxytryptophan in a case of Lesch-Nyhan syndrome.

1976 • 39 citations

Renal transport of urate during diuretic-induced hypouricemia

1976 • 39 citations

Adenosine metabolism in cultured lymphoid cells

1977 • 39 citations

Genetic Aspects of Gout

1974 • 39 citations

Adenosine deaminase: demonstration of a "silent" gene associated with combined immunodeficiency disease.

1974 • 39 citations

Panniculitis of the Legs With Urate Crystal Deposition

1977 • 38 citations

Therapeutic approach to pancreatic extract-induced hyperuricosuria in cystic fibrosis

1977 • 38 citations

Hyperuricemia in Health and Disease

1972 • 38 citations

A family with red cell pyrimidine 5'-nucleotidase deficiency

1976 • 38 citations

Hypoxanthine-guanine phosphoribosyltransferase. Characterization of a mutant in a patient with gout.

1975 • 38 citations

An abnormal form of purine nucleoside phosphorylase in a family with a child with severe defective T-cell-and normal B-cell immunity

1976 • 37 citations

Alteration of quaternary structural behaviour of an hepatic orotate phosphoribosyltransferase-orotidine-5′-phosphate decarboxylase complex in rats following allopurinol therapy

1972 • 37 citations

The use of 5-hydroxytryptophan in a child with Lesch-Nyhan syndrome

1976 • 37 citations

Suppression of Uric Acid Secretion in a Patient with Renal Hypouricemia

1974 • 37 citations

Transport of a nonphosphorylated nucleoside, 5'-deoxyadenosine, by murine leukemia L1210 cells.

1978 • 36 citations

Identification and function of T cells in the peripheral blood of patients with hypogammaglobulinaemia.

1974 • 36 citations

Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.

1975 • 36 citations

Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

1976 • 35 citations

Metabolic investigations after xylitol infusion in human subjects

1976 • 35 citations

Effect of allopurinol and oxipurinol on pyrimidine synthesis in cultured human fibroblasts

1971 • 35 citations

ADENOSINE-DEAMINASE DEFICIENCY AND SEVERE COMBINED IMMUNODEFICIENCY SYNDROME

1973 • 35 citations

Crystal deposition disease

1977 • 35 citations

Purine Dysfunction in Cells from Patients with Adenosine Deaminase Deficiency

1976 • 35 citations

Hereditary orotic aciduria: Types I and II

1973 • 34 citations

Quantitative Immunoassay of Adenosine Deaminase in Combined Immunodeficiency Disease

1977 • 34 citations

Hypoxanthine Phosphoribosyltransferase: Two-Dimensional Gels from Normal and Lesch-Nyhan Hemolyzates

1977 • 34 citations

Activation of Variants of Hypoxanthine-Guanine Phosphoribosyl Transferase by the Normal Enzyme

1972 • 34 citations

Adenine nucleotide metabolism in relation to purine enzymes in liver, erythrocytes and cultured fibroblasts

1975 • 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

Purine Metabolism and Control of Cell Proliferation

1977 • 34 citations

Purification and properties of human erythrocyte pyrimidine 5'-nucleotidase.

1977 • 33 citations

Microscopic Studies on Skeletal Muscle in Gout Patients Treated with Allopurinol

1971 • 33 citations

Adsorption of polymorphonuclear leukocyte lysosomal enzymes to monosodium urate crystals

1977 • 33 citations

Regulation by nucleotides of the activity of partially purified ribonucleotide reductase from rat embryos.

1968 • 33 citations

Hypoxanthine phosphoribosyltransferase activity in intact fibroblasts from patients with X-linked hyperuricemia.

1976 • 33 citations

Inhibition of Mitogen Mediated Lymphocyte Blastogenesis by Adenosine

1975 • 33 citations

Gout in the Maoris

1975 • 33 citations

Metabolism by Man of Intravenously Administered Adenine

1977 • 33 citations

A patient with purine nucleoside phosphorylase deficiency: Enzymological and metabolic aspects

1977 • 32 citations

Hypoxanthine transport by cultured Chinese hamster lung fibroblasts.

1976 • 32 citations

Inherited Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase in X-Linked Uric Aciduria (the Lesch-Nyhan Syndrome and Its Variants)

1976 • 32 citations

Selective severe cellular immunodeficiency

1976 • 32 citations

Muscle adenylic acid deaminase activity

1973 • 32 citations

Regulation of purine biosynthesis and turnover

1976 • 32 citations

Partial deficiency of purine nucleoside phosphorylase: studies of purine and pyrimidine metabolism.

1978 • 31 citations

Biological effects of inhibition of guanine nucleotide synthesis by mycophenolic acid in cultured neuroblastoma cells.

1977 • 31 citations

Mammalian Deoxynucleoside Kinases

1971 • 31 citations

Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.

1977 • 31 citations

Hyperuricosuric encephalopathy without hyperuricaemia.

1968 • 31 citations

Interallelic complementation in hydrid cells derived from Chinese hamster diploid clones deficient in hypoxanthine-guanine phosphoribosyl-transferase activity

1973 • 31 citations

The Effect of L-5-Hydroxytryptophan on Self-Mutilation in Lesch-Nyhan Disease: A Negative Report

1976 • 30 citations

Uric Acid Metabolism in Man

1976 • 30 citations

Hereditary Orotic Aciduria: Evidence for a Structural Gene Mutation

1974 • 30 citations

Correlation Between Adenylate Metabolizing Enzymes and Adenine Nucleotide Levels of Erythrocytes During Blood Storage in Various Media

1972 • 30 citations

Adenosine deaminases of two different molecular sizes in human tissues

1970 • 30 citations

Xanthine Oxidase Deficiency: Studies of a Previously Unreported Case

1974 • 30 citations

Regulation of purine nucleotide synthesis

1976 • 29 citations

Purine nucleoside phosphorylase, a possible histochemical marker for T-cells in man

1977 • 29 citations

A GENERAL METHOD OF PURIFICATION OF ADENOSINE DEAMINASE BY AFFINITY CHROMATOGRAPHY

1975 • 29 citations

Tryptic peptide analysis of normal and mutant forms of hypoxanthine phosphoribosyltransferase from HeLa cells.

1977 • 29 citations

Folic acid non-dependent formiminoglutamic aciduria in two siblings

1974 • 29 citations

Regulation of Cellular Growth

1975 • 28 citations

Avascular necrosis and its relation to lipid and purine metabolism.

1975 • 28 citations

LABELLED PROTEINS IN RABBIT VAGUS NERVE BETWEEN THE FAST AND SLOW PHASES OF AXONAL TRANSPORT

1976 • 27 citations

Studies of the relationship between adenosine deaminase and immune function.

1977 • 27 citations

Screening for ADA deficiency

1974 • 27 citations

Current concepts on the regulation of purine biosynthesis de novo in man

1975 • 27 citations

Clinical Features of Patients With the "Partial" Deficiency of the X-Linked Uricaciduria Enzyme

1972 • 27 citations

Influence of oral ribonucleic acid on orotaciduria due to allopurinol administration

1971 • 26 citations

Effect of fenoprofen calcium on acute gouty arthritis

1976 • 26 citations

Hereditary Xanthinuria

1977 • 26 citations

Progressive Seizures With Hyperuricosuria Reversed by Allopurinol

1974 • 26 citations

Control of pyrimidine biosynthesis in human lymphocytes. Inhibitory effect of guanine and guanosine on induction of enzymes for pyrimidine biosynthesis de novo in phytohemagglutinin-stimulated lymphocytes.

1976 • 26 citations

Increased formation of 5-phosphoriboxyl-1-pyrophosphate in red blood cells of some gouty patients.

1968 • 26 citations

Panniculitis of the legs with urate crystal deposition.

1977 • 26 citations

Adenosine deaminase deficiency and immunodeficiencies.

1977 • 26 citations

Evaluation of adenosine deaminase and other purine salvage pathway enzymes in horses with combined immunodeficiency

1976 • 26 citations

Heterogeneity of hypoxanthine guanine phosphoribosyl transferase from human erythrocytes

1975 • 26 citations

Modification of Brain Serotonin by the Diet

1974 • 26 citations

The function of adenosine deaminase in the human erythrocyte

1977 • 25 citations

Dietary Feedback Regulation of Purine and Pyrimidine Biosynthesis in Man

1977 • 25 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

Uric acid excretion by the pig kidney

1976 • 24 citations

Purine catabolism in man: characterization of placental microsomal 5′-nucleotidase

1976 • 24 citations

Reversion in expression of hypoxanthine-guanine phosphoribosyl transferase following cell hybridization

1975 • 24 citations

Cellular immunodeficiency associated with nucleoside phosphorylase deficiency

1977 • 24 citations

Genetic complementation in hybrid cells derived from mutagen-induced mouse clones deficient in HGPRT activity

1975 • 23 citations

Crystal Deposition Joint Disease

1974 • 23 citations

Genetic study of beta-aminoisobutyric acid excretion by Japanese.

1969 • 23 citations

Electrophoretic and kinetic studies of human erythrocytes deficient in pyrimidine 5?-nucleotidase

1977 • 23 citations

Purine Excretion in Complete Adenine Phosphoribosyltransferase Deficiency: Effect of Diet and Allopurinol Therapy

1977 • 23 citations

Biochemical Characteristics of 8-Azaguanine Resistant Human Lymphoblast Mutants Selected in Vitro

1974 • 22 citations

Inactivation of Salmonella phosphoribosylpyrophosphate synthetase by oxidation of a specific sulfhydryl group with potassium permanganate.

1975 • 22 citations

Altered Metabolism and Endogenous Cyclic AMP in Cultured Cells deficient in Cyclic AMP-binding Proteins

1973 • 22 citations

Effect of 2-Ethylamino-1,3,4-Thiadiazole on the Incorporation of Glycine into Urinary Purines and Uric Acid in Man

1963 • 22 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Mutant Glioma Cells: Diminished Monoamine Oxidase Activity

1976 • 22 citations

Implications of Disorders of Purine Metabolism for the Kidney and the Urinary Tract

1977 • 22 citations

Three cases of hereditary hemolytic anemia with pyrimidine 5?-nucleotidase deficiency in a Japanese family

1977 • 22 citations

Hereditary hemolytic anemia with erythrocyte pyrimidine 5?-nucleotidase deficiency in Spain

1976 • 22 citations

Inosine uptake by cultured fibroblasts from normal and purine nucleoside phosphorylase-deficient humans.

1977 • 22 citations

Terminal deoxynucleotidyl transferase and adenosine deaminase in human lymphoblastoid cell lines

1975 • 21 citations

Avascular Necrosis of the Femoral Head in a Patient With Gout

1968 • 21 citations

Purine reutilization in phytohemagglutinin-stimulated human T-lymphocytes

1978 • 21 citations

Hyperuricemia as a Risk Factor in Coronary Heart Disease

1977 • 21 citations

Variations in Allopurinol Metabolism by Xanthinuric Subjects

1974 • 21 citations

Bilateral Carpal Tunnel Syndrome Secondary to Gouty Tenosynovitis

1976 • 21 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

Lipid and Purine Metabolism in Benign Symmetric Lipomatosis

1974 • 21 citations

Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase.

1978 • 20 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

The Diagnosis of the Carrier State for the Lesch—Nyhan Syndrome

1975 • 20 citations

Possible urate nephropathy of the newborn infant as a cause of transient renal insufficiency

1977 • 19 citations

Port wine and the gout

1975 • 19 citations

Levels of some enzymes acting on DNA in xeroderma pigmentosum

1974 • 19 citations

Effect of lowered intracellular ATP and GTP concentrations on purine ribonucleotide synthesis and interconversion

1977 • 19 citations

Pharmacologic Approach to the Maintenance of Urate Homeostasis

1975 • 19 citations

GOUT, URIC ACID AND RENAL DISEASE*

1962 • 19 citations

The radiographic manifestations of gouty arthritis.

1977 • 19 citations

Evidence for X-Linkage of Phosphoribosylpyrophosphate Synthetase in Man

1977 • 19 citations

A continuous spectrophotometric assay for hypoxanthine-guanine phosphoribosyltransferase

1977 • 18 citations

An Autopsy Case of the Lesch-Nyhan Syndrome: Normal HGPRT Activity in Liver and Xanthine Calculi in Various Tissues

1976 • 18 citations

Evidence for a 5'-nucleotidase in human leukemic leukocytes

1973 • 18 citations

Gout with Adenine Phosphoribosyl Transferase Deficiency

1974 • 18 citations

Preventive Control of the Lesch-Nyhan Syndrome

1972 • 18 citations

Rheumatic disorders in the South African Negro. Part IV. Gout and hyperuricaemia.

1977 • 17 citations

A Quantitative Study of Skeletal-Muscle Purines and Pyrazolo[3,4-d]Pyrimidines in Gout Patients Treated with Allopurinol

1971 • 17 citations

Uric acid catabolism in the woolly monkey

1976 • 17 citations

Oxipurinol and orotic aciduria: Effect on the orotidine-5′-monophosphate decarboxylase activity of cultured human fibroblasts

1974 • 17 citations

The 'adenosine cycle' is not a significant route of purine metabolism in mammalian cells

1976 • 17 citations

Recent advances in the identification of enzyme abnormalities underlying excessive purine synthesis in man

1975 • 17 citations

Human Erythrocyte Adenosine Deaminase Polymorphism in Denmark

1970 • 17 citations

Enzymes of Ammonia Detoxication after Portacaval Shunt in the Rat

1977 • 17 citations

Screening for primary immunodeficiencies associated with purine nucleoside phosphorylase deficiency or adenosine deaminase deficiency.

1977 • 17 citations

The quantitative determination of hypoxanthine and xanthine (‘oxypurines’) in skeletal muscle from two patients with congenital xanthine oxidase deficiency (xanthinuria)

1970 • 17 citations

Lesch-Nyhan Syndrome: The Synthesis of Inosine 5′-Phosphate in the Hypoxanthine-Guanine Phosphoribosyltransferase-deficient Erythrocyte by Alternate Biochemical Pathways

1977 • 17 citations

Adenine Phosphoribosyltransferase Deficiency in a Female with Gout

1974 • 17 citations

Biology of free and combined adenine: distribution and metabolism

1977 • 17 citations

Urinary Purines in a Patient with a Severely Defective T Cell Immunity and a Purine Nucleoside Phosphorylase Deficiency

1977 • 16 citations

Purine metabolic cycle in normal and leukemic leukocytes.

1977 • 16 citations

Abnormalities of PRPP Metabolism Leading to an Overproduction of Uric Acid

1978 • 16 citations

Answer to criticism of Morton and Lalouel.

1977 • 16 citations

Up John, Down Glucose

1977 • 16 citations

Uric acid lithiasis associated with altered kinetics of hypoxanthine-guanine phosphoribosyltranferase

1976 • 16 citations

A Second Case of Inosine Phosphorylase Deficiency with Severe T-Cell Abnormalities

1977 • 16 citations

Factors in the Pathogenesis of the Brain Damage and Anaemia in the Lesch‒Nyhan Syndrome

1977 • 15 citations

Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

1974 • 15 citations

Gout with adenine phosphoribosyl transferase deficiency.

1974 • 15 citations

A new ultramicrochemical assay for purine nucleoside phosphorylase

1978 • 15 citations

Phosphoribosylpyrophosphate Synthesis in Cultured Human Cells

1977 • 15 citations

Urate Kinetics in Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Their Significance for the Understanding of Gout

1976 • 15 citations

Purine Metabolism in Intact Erythrocytes from Controls and HG-PRT Deficient Individuals

1974 • 14 citations

A Role of Liver Adenosine in the Renewal of the Adenine Nucleotides of Human and Rabbit Erythrocytes

1974 • 14 citations

Defect of Incorporation of Glycine-1-<sup>14</sup>C into Urinary Uric Acid in Formiminotransferase Deficiency Syndrome

1972 • 14 citations

The Prenatal Diagnosis of Genetic Disorders

1978 • 14 citations

Hypouricemia, Hypercalciuria, and Decreased Bone Density. A New Hereditary Syndrome

1974 • 14 citations

Complementing xeroderma pigmentosum fibroblasts restore biological activity to UV-damaged DNA

1975 • 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

Oxonate-Induced Hyperuricemia and Orotic Aciduria in Mice

1978 • 13 citations

Molecular Nature of Enzyme Regulation in Purine Biosynthesis

1977 • 13 citations

Ibuprofen in acute polyarticular gout

1976 • 13 citations

Lymphocyte Enzyme Deficiencies and The Metabolic Basis of Immunodeficiency Disease

1977 • 13 citations

Purine and Pyrimidine Nucleotide Concentrations in Cells with Decreased Hypoxanthine-Guanine-Phosphoribosyltransferase (HGPRT) Activity

1977 • 13 citations

Altered Excretion of 5-Hydroxyindoleacetic Acid and Glycine in Patients with the Lesch-Nyhan Disease

1977 • 13 citations

The Design of Biologically Active Nucleosides

1973 • 13 citations

A Xanthine Stone in a Xanthinuric Boy: A Biochemical Case Study

1977 • 13 citations

Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity

1978 • 13 citations

Formation of oxyadenine metabolites in the rabbit after intravenous administration of adenine

1977 • 13 citations

Polymorphismus der Adenosindesaminase

1970 • 13 citations

Acute renal failure and gout as presenting features of acute lymphoblastic leukaemia.

1976 • 12 citations

Reaction of antibody to normal human hypoxanthine phosphoribosyltransferase with products of mutant genes

1976 • 12 citations

Specific Adenosine Binding Proteins from Rat Liver

1975 • 12 citations

In Vitro Effects of Magnesium Ions on Mutant Cells from Patients with the Lesch-Nyhan Syndrome

1973 • 12 citations

Red-cell uridine-5-monophosphate kinase (UMPK)

1975 • 12 citations

Erythrocyte adenosine deaminase and purine nucleoside phosphorylase activity in gout

1975 • 12 citations

Adenosine deaminase deficiency: The first inborn error of metabolism noted in immunodeficiency disease

1974 • 12 citations

The gouty kidney

1977 • 12 citations

Hypoxanthine-guanine phosphoribosyltransferase: A simple spectrophotometric assay

1977 • 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

Evaluation of metabolic pathway activity in cultured skin fibroblasts and blood leukocytes

1977 • 11 citations

Enzymology of Gout

1974 • 11 citations

Oxipurinol-Associated Inhibition of Pyrimidine Synthesis in Human Lymphoblasts

1974 • 11 citations

Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods

1977 • 10 citations

Hereditary orotic aciduria: results of a screening survey.

1975 • 10 citations

Prolonged hypouricemia associated with acute chlorprothixene ingestion

1975 • 10 citations

A CASE OF GOUTY ARTHRITIS ASSOCIATED WITH DOWN'S SYNDROME

1976 • 10 citations

A rapid micromethod for prenatal diagnosis of Lesch Nyhan syndrome*

1976 • 10 citations

NUCLEOSIDES AND NUCLEOTIDES: PAST, PRESENT, AND FUTURE

1975 • 10 citations

Purine nucleoside phosphorylase of rabbit liver. Mechanism of catalysis.

1977 • 10 citations

Regulatory Aspects of the Synthesis of 5-Phosphoribosyl-1-Pyrophosphate in Human Red Blood Cells

1974 • 10 citations

Purine Toxicity in Human Lymphoblasts

1977 • 10 citations

Hyperuricemia and other Cardiovascular Risk Factors

1977 • 9 citations

Urinary xanthine stones in an allopurinol-treated gouty patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

1978 • 9 citations

Rapid prenatal diagnosis of the Lesch-Nyhan syndrome.

1977 • 9 citations

Inherited Biochemical Disorders and Uric Acid Metabolism

1976 • 9 citations

Xanthinuria : study of a large kindred with familial urolithiasis and gout.

1977 • 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

Pathophysiology of Purine Metabolism in Man

1974 • 9 citations

Human Glutamine Phosphoribosylpyrophosphate (PP-ribose-P) Amidotransferase: Kinetic, Regulation and Configurational Changes

1974 • 9 citations

A spectrophotometric assay for phosphoribosylpyrophosphate synthetase

1978 • 9 citations

Complementation in hybrid cells derived from mutagen-induced mouse clones deficient in hypoxanthine-guanine phosphoribosyl-transferase activity

1974 • 9 citations

Purine Synthesis and Excretion in Mutants of the WI-L2 Human Lymphoblastoid Line Deficient in Adenosine Kinase (AK) and Adenine Phosphoribosyltransferase (APRT)

1977 • 9 citations

Mutant Phosphoribosylpyrophosphate Synthetase in Two Gouty Siblings with Excessive Purine Production

1974 • 8 citations

Xanthine, hypoxanthine and muscle pain. Histochemical and biochemical observations.

1975 • 8 citations

Erythrocyte ITP pyrophosphohydrolase deficiency in a psychiatric population.

1976 • 8 citations

Treatment of immunodeficiency diseases by organ transplantation.

1977 • 8 citations

Pharmacological Alterations of Intracellular Phosphoribosylpyrophosphate (PP-ribose-P) in Human Tissues

1974 • 8 citations

Electrophoretic variation in the partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.

1977 • 8 citations

Studies on the Regulation of the Biosynthesis of Myocardial Adenine Nucleotides

1977 • 8 citations

Identification of hypoxanthine as the major component of a chromatographic fraction of transfer factor

1976 • 8 citations

Adenine and Adenosine Metabolism in Phytohemagglutinin (PHA) — Stimulated and Unstimulated Normal Human Lymphocytes

1977 • 8 citations

Primary Immunodeficiency Diseases

1976 • 8 citations

IMMUNOPHARMACOLOGIC STUDIES OF ADENOSINE DEAMINASE DEFICIENT LYMPHOCYTES

1977 • 8 citations

Effect of 6-mercaptopurine on inosinic acid dehydrogenase in cultured human fibroblasts

1976 • 8 citations

The nosology of male pseudohermaphroditism due to androgen insensitivity.

1978 • 8 citations

Experience with Detection of Heterozygous Carriers and Prenatal Diagnosis of Lesch-Nyhan Disease

1977 • 8 citations

Genetic heterogeneity of hypoxanthine‐phosphoribosyl transferase in human fibroblasts of 3 families*

1977 • 7 citations

Lesch-Nyhan-Syndrom ohne Selbstverstümmelungstendenz

1976 • 7 citations

Gene expression of foreign metaphase chromosomes introduced into cultured mammalian cells?

1975 • 7 citations

Increased PP-ribose-P Synthetase Activity: A Genetic Abnormality Leading to Excessive Purine Production and Gout

1974 • 7 citations

The effect of allopurinol on oxypurine excretion in xanthinuria.

1976 • 7 citations

Diminished Affinity for Purine Substrates as a Basis for Gout with Mild Deficiency of Hypoxanthine-Guanine Phosphoribosyltransferase

1977 • 7 citations

Adenine Phosphoribosyltransferase Deficiency: Report of a Second Family

1974 • 7 citations

Control of purine biosynthesis in normal and pathologic states.

1975 • 7 citations

Carbohydrate Induced Increase in Uric Acid Synthesis. Studies in Human Volunteers and in Laboratory Rats

1977 • 6 citations

Increase in uric acid biosynthesis produced by 2‐substituted thiadiazoles

1965 • 6 citations

The incorporation of homologous and heterologous hypoxanthine-guanine phosphoribosyltransferase into mutant cells

1978 • 6 citations

Protein Binding to Monosodium Urate Crystals and its Effect on Platelet Degranulation

1977 • 6 citations

X-Linked Pattern of Inheritance of Gout Due to Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase

1977 • 6 citations

Erythrocyte adenosine kinase activity in gout

1976 • 6 citations

Inherited biochemical disorders and uric acid metabolism

1975 • 6 citations

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Altered Kinetic Properties of a Specific Mutant Form of the Enzyme

1974 • 6 citations

Punktatdiagnostik von Gicht und Pseudogicht

1976 • 6 citations

Defects of Enzyme Regulation in Metabolic Disease

1977 • 6 citations

STUDIES ON THE ELECTROPHORETIC VARIANTS OF HUMAN HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE

1975 • 6 citations

Human Phosphoribosylpyrophosphate (PP-ribose-P) Synthetase: Properties and Regulation

1974 • 6 citations

Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT) Deficiency: Immunologic Studies on the Mutant Enzyme

1974 • 5 citations

Serum Uric Acid Levels in England and Scotland

1977 • 5 citations

[Clinical study of gout and hyperuricemia. (1) Epidemiological study on the development of gout].

1974 • 5 citations

An analysis of the bidirectional transport of uric acid by the human nephron

1975 • 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

Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I

1978 • 5 citations

Allopurinol Toxicity Masquerading as Malignancy

1978 • 5 citations

Adenine: Chemistry, Analytical Methods, Sources, Purity, and Specifications

1977 • 5 citations

Panel Discussion: Hyperuricemia as a Risk Factor

1977 • 5 citations

Kidney in Patients with Abnormalities in Uric Acid Metabolism

2015 • 5 citations

Reversal of organic brain syndrome with seizures and hyperuricosuria subsequent to allopurinol therapy.

1971 • 5 citations

Purine and Pyrimidine Nucleotides in Some Mutant Human Lymphoblasts

1977 • 5 citations

Intergenomic complementation of two X-linked genes by hydridization of mutant human fibroblasts.

1969 • 5 citations

Crystals in skeletal muscle.

1971 • 5 citations

Superactivity of Phosphoribosylpyrophosphate Synthetase, due to Feedback Resistance, Causing Purine Overproduction and Gout

1977 • 5 citations

Goutte et mongolisme. A propos d'une observation

1974 • 5 citations

Activities of purine pathway enzymes in gouty human fibroblasts aged in vitro

1977 • 4 citations

Zur Behandlung der Uterusmyome

1885 • 4 citations

Immunoreactive Adenosine Deaminase (ADA) in Cultured Fibroblasts from Patients with Combined Immunodeficiency Disease

1977 • 4 citations

Metro a Ogryzlo, 1915–1977

1977 • 4 citations

The Effect of Different Purines and Pyrimidines on Human Pyrimidine Biosynthesis

1977 • 4 citations

Choice of treatment in gout.

1977 • 4 citations

[The simultaneous occurrence of psoriasis, sarcoidosis and gout. Report of 3 cases].

1975 • 4 citations

Xanthinuria and xanthine calculous pyonephrosis.

1976 • 4 citations

Genetic Defects in Human Purine Metabolism Leading to Urolithiasis

1976 • 4 citations

Human 5′-Nucleotidase: Multiple Molecular Forms and Regulation

1977 • 4 citations

Fibroblast Phosphoribosylpyrophosphate and Ribose-5-Phosphate Concentration and Generation in Gout with Purine Overproduction

1977 • 4 citations

Uric acid biosynthesis and its disorders.

1976 • 4 citations

REGULATION OF HUMAN GLUTAMINE PHOSPHORIBOSYLPYROPHOSPHATE AMIDOTRANSFERASE BY INTERCONVERSION OF TWO FORMS OF THE ENZYME

1975 • 4 citations

Nutritional State and Purine Metabolism

1977 • 4 citations

Transfer of Resistance to Selective Conditions from Fibroblasts with Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase to Normal Cells

1977 • 4 citations

Effects of oxipurinol on pyrimidine nucleotide synthesis in human lymphoblasts

1975 • 4 citations

XANTHINE STONE AND XANTHINURIA ASSOCIATED WITH RETROCAVAL URETER: REPORT OF A CASE AND A REVIEW OF THE LITERATURE

1976 • 4 citations

Diabetes and Uric Acid — A Relationship Investigated by the Epidemiological Method

1974 • 3 citations

Purine Nucleotide Synthesis, Interconversion and Catabolism in Human Leukocytes

1974 • 3 citations

[Chronic hyperammonemia with orotic aciduria: evidence of pyrimidine pathway stimulation (author's transl)].

1975 • 3 citations

Xanthinuria, Lithiasis and Gout in the Same Family

1977 • 3 citations

The Metabolic Effects of Tienilic Acid, a New Diuretic with Uricosuric Properties in Man and Dog

1977 • 3 citations

Familial Renal Hypouricemia due to Isolated Tubular Defect

1977 • 3 citations

Metabolic effects of ethyl adenosine 5′-carboxylate in Ehrlich ascites tumor cells in vitro

1976 • 3 citations

The man-made mouse

1978 • 3 citations

TISSUE ADENOSINE DEAMINASE ACTIVITY IN AN ADENOSINE DEFICIENT-COMBINED IMMUNODEFICIENCY DISEASE PATIENT

1977 • 3 citations

Protein Adsorption to Monosodium Urate Crystals: Differential Responses of Human Peripheral Blood Neutrophils

1977 • 3 citations

Purine excretion by cultured skin fibroblasts from patients with abnormal purine metabolism.

1976 • 3 citations

Disorders of Purine and Pyrimidine Metabolism

1976 • 3 citations

Consecutive stages of arthropathy progression in patients with gout.

1977 • 3 citations

[Long-term therapy with benzbromarone in uric arthritis].

1975 • 3 citations

[Congenital erythrocytic pyrimidine 5'-nucleotidase deficiency. A new type of haemolytic erythro-enzymopathy (author's transl)].

1976 • 2 citations

[Gout, hyperuricemia and femur head osteonecrosis (FHON)].

1975 • 2 citations

Recurrent Gouty Phlebitis without Articular Gout

1977 • 2 citations

Foibles and Fallacies in the Diagnosis of Arthritis

1977 • 2 citations

Purine Metabolism in Cultured Human Fibroblasts Derived from Patients Deficient in Enzymes of the Purine Salvage Pathway1

2015 • 2 citations

[The hypoexcretors and hyperproducers of uric acid amomg juvenile gout patients].

1976 • 2 citations

[Experiences with uricotest, a simple device for the demonstration of birefringent cristals in tissue (author's transl)].

1977 • 2 citations

Human Phosphoribosylpyrophosphate Synthetase: Relation of Activity and Quaternary Structure

1977 • 2 citations

Purification of Human Erythrocyte Adenosine Deaminase

1977 • 2 citations

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a 'Celebesian' family. A case of crippling gout associated with haematological disorders.

1976 • 2 citations

Influence of Urate on Connective Tissue Metabolism

1977 • 2 citations

Introduction

1975 • 2 citations

Allopurinol-induced xanthine lithiasis in a patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase

1978 • 2 citations

Adenine and Adenosine Metabolism in Lymphocytes Deficient in Adenosine Deaminase (ADA) Activity

1977 • 2 citations

Purification and Characterization of Hypoxanthine-Guanine Phosphoribosyl Transferase from Cultured HTC Cells

1977 • 1 citations

Study of Immunoreactive Material in Patients with Deficient HPRT Activity

1977 • 1 citations

PURINE METABOLISM IN THERAPY OF VON GIERKE'S DISEASE

1977 • 1 citations

[Trial of detection of female carriers for the ornithine-carbamyltransferase deficiency by the urine assay of crotic acid. Apropos of a family study].

1975 • 1 citations

Platelet aggregation in rats made hyperuricaemic with nucleic adid-rich diets containing oxonate, and inhibitor of uricase [proceedings].

1976 • 1 citations

Chromosomal characteristic of Chinese hamster cells and their HGPRT-deficient mutant line.

1977 • 1 citations

Management of gouty arthritis induced by thiazide.

1977 • 1 citations

[Adenosine-deaminase defect of erythrocytes and combined immune defect: a new metabolic disease. First experiences with screening tests of the disease and quantitative determination of enzyme activity].

1977 • 1 citations

[Phosphoribosyl pyrophosphate and its metabolic enzymes in the erythrocytes in certain forms of anemia].

1976 • 1 citations

[Chronic lead poisoning: Lead gout with giant tophi on the skin, nephrophathy and porphyrinopathy].

1975 • 1 citations

Etiopathogenesis of the gouty arthritis.

1975 • 1 citations

[Involuntary movement in Lesch-Nyhan syndrome (author's transl)].

1976 • 1 citations

[Pathogenesis, clinical picture, diagnosis and treatment of Leach-Nyhan syndrome].

1977 • 1 citations

[Gout is on the increase in Finland].

1977 • 1 citations

Proceedings: Characterization of purine metabolism in cultured fibroblasts from a gouty family with feedback-resistant phosphoribosylpyrophosphate synthetase.

1975 • 1 citations

[Coronary insufficiency in patients with gout].

1975 • 1 citations

[A case of extreme gouty arthritis, shown xeroradiographically (author's transl)].

1976 • 1 citations

[Congenital immunodeficiency syndrome with adenosine deaminase and purine nucleoside phosphorylase deficiencies (1)].

1977 • 1 citations

[Folic acid metabolism in Lesch-Nythan syndrome].

1977 • 1 citations

Deleted Work

1955 • 0 citations