J. Edwin Seegmiller

J. Edwin Seegmiller's AcademicInfluence.com Rankings

J. Edwin Seegmiller

Biology

#2257

World Rank

#3611

Historical Rank

#1010

USA Rank

Biochemistry

#427

World Rank

#507

Historical Rank

#160

USA Rank

biology Degrees

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Biology

J. Edwin Seegmiller's Degrees

PhD Biochemistry University of California, Berkeley
Bachelors Chemistry University of Utah

Why Is J. Edwin Seegmiller Influential?

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According to Wikipedia, J Edwin Seegmiller, or Jay Seegmiller, was an American physician and biochemical geneticist best known for his role in discovering the biochemical basis of the Lesch–Nyhan syndrome. He was a rheumatologist and a pioneer in research on arthritic diseases and on aging.

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J. Edwin Seegmiller's Published Works

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Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis (1967) (1076)
A specific enzyme defect in gout associated with overproduction of uric acid. (1967) (413)
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. (1969) (403)
Lymphospecific toxicity in adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency: possible role of nucleoside kinase(s). (1977) (355)
The nature of the defect in tyrosine metabolism in alcaptonuria. (1958) (310)
AN ENZYMATIC SPECTROPHOTOMETRIC METHOD FOR DETERMINATION OF OROTIC ACID. (1964) (268)
Chondrocyte-derived apoptotic bodies and calcification of articular cartilage. (1998) (267)
Age-related physiological changes and their clinical significance. (1981) (247)
The Inflammatory Reaction to Sodium Urate: Its Possible Relationship to the Genesis of Acute Gouty Arthritis (1962) (242)
Uric acid production in gout. (1961) (214)
Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. (1968) (209)
THE EFFECTIVENESS OF THE XANTHINE OXIDASE INHIBITOR ALLOPURINOL IN THE TREATMENT OF GOUT. (1965) (198)
Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects. (1967) (181)
An enzymatic determination of ammonia in biological fluids. (1965) (179)
Effect of adenosine deaminase inhibition upon human lymphocyte blastogenesis. (1976) (175)
Biochemical basis for the enhanced toxicity of deoxyribonucleosides toward malignant human T cell lines. (1979) (169)
Biochemistry of uric acid and its relation to gout. (1963) (159)
Differential sensitivity of human leukemic T cell lines and B cell lines to growth inhibition by deoxyadenosine. (1978) (156)
Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism (1968) (156)
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man. (1968) (153)
Increased Cystine in Leukocytes from Individuals Homozygous and Heterozygous for Cystinosis (1967) (153)
The enzymatic conversion of 6-phosphogluconate to ribulose-5-phosphate and ribose-5-phosphate. (1951) (151)
Xanthine oxidase activity in human tissues and its inhibition by allopurinol (4-hydroxypyrazolo[3,4-d] pyrimidine). (1965) (149)
The presence of a kinin in inflammatory synovial effusion from arthritides of varying etiologies. (1967) (145)
The enzymatic spectrophotometric method for determination of uric acid. (1959) (138)
Adenosine metabolism in phytohemagglutinin-stimulated human lymphocytes. (1976) (135)
Kinetic studies of hypoxanthine-guanine phosphoribosyltransferase. (1968) (124)
Increased free-cystine content of fibroblasts cultured from patients with cystinosis. (1967) (121)
RENAL RETENTION OF URIC ACID INDUCED BY INFUSION OF BETA-HYDROXYBUTYRATE AND ACETOACETATE. (1965) (115)
CLINICAL, PHYSIOLOGICAL AND BIOCHEMICAL STUDIES OF A PATIENT WITH XANTHINURIA AND PHEOCHROMOCYTOMA. (1964) (107)
Adenosine kinase initiates the major route of ribavirin activation in a cultured human cell line. (1978) (104)
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease. (1976) (104)
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity. (1973) (100)
Adenine and adenosine are toxic to human lymphoblast mutants defective in purine salvage enzymes. (1977) (100)
Uric acid metabolism in psoriasis. (1961) (100)
Purine Overproduction in Man Associated with Increased Phosphoribosylpyrophosphate Synthetase Activity (1973) (99)
An enzymatic spectrophotometric method for the determination of xanthine and hypoxanthine. (1967) (98)
Effects of Ascorbic Acid in Alkaptonuria: Alterations in Benzoquinone Acetic Acid and an Ontogenic Effect in Infancy (1989) (96)
Cystinosis. Combined clinical staff conference at the National Institutes of Health. (1968) (96)
THE RENAL EXCRETION OF URIC ACID IN GOUT. (1962) (93)
Ecto-5'-nucleotidase activity in T and B lymphocytes from normal subjects and patients with congenital X-linked agammaglobulinemia. (1979) (92)
Relationships between glycogen storage disease and tophaceous gout. (1967) (92)
Urinary xanthine stones--a rare complications of allopurinol therapy. (1969) (90)
LYON HYPOTHESIS AND X-LINKED DISEASE (1967) (90)
An enzymatic basis for variation in response to allopurinol. Hypoxanthine-guanine phosphoribosyltransferase deficiency. (1968) (89)
Interleukin 1 beta suppresses transforming growth factor-induced inorganic pyrophosphate (PPi) production and expression of the PPi-generating enzyme PC-1 in human chondrocytes. (1995) (87)
Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector. (1984) (85)
Altered regulation of Epstein-Barr virus induced lymphoblast proliferation in rheumatoid arthritis lymphoid cells. (1980) (85)
Stimulation of human purine synthesis de novo by fructose infusion. (1975) (83)
Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man. (1972) (83)
Differential effects of aging on human chondrocyte responses to transforming growth factor beta: increased pyrophosphate production and decreased cell proliferation. (1997) (81)
Retroviral vector-mediated gene transfer into human hematopoietic progenitor cells. (1985) (79)
The effects of azathioprine (imuran) on purine synthesis in clinical disorders of purine metabolism. (1967) (79)
Cystine: Compartmentalization within Lysosomes in Cystinotic Leukocytes (1969) (77)
Biochemical diagnosis of an X-linked disease in utero. (1968) (77)
Alterations of pigment epithelium in cystinosis. (1967) (74)
Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis. (1973) (73)
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) (73)
Hyperuricemia and gout. Classification, complications and management. (1979) (72)
Benign symmetric lipomatosis (Launois-Bensaude adenolipomatosis) with gout and hyperlipoproteinemia. (1970) (72)
Effects of orotic acid on purine and lipoprotein metabolism in man. (1970) (71)
The plasma ammonia and glutamine content in patients with hepatic coma. (1954) (70)
Evidence for intergenic complementation in hybrid cells derived from two human diploid strains each carrying an X-linked mutation. (1969) (70)
Substrate Stabilization: Genetically Controlled Reciprocal Relationship of Two Human Enzymes (1970) (69)
Excessive production of uric acid in type I glycogen storage disease. (1968) (69)
Adenine nucleotide degradation during energy depletion in human lymphoblasts. Adenosine accumulation and adenylate energy charge correlation. (1979) (68)
The uricosuria and orotic aciduria induced by 6-azauridine. (1961) (67)
Hyperuricemia and Gout (1979) (66)
The old and new concepts of acute gouty arthritis. (1962) (66)
Properties of 5-phosphoribosyl-1-pyrophosphate amidotransferase from human lymphoblasts. (1973) (66)
The acute attack of gouty arthritis. (1965) (65)
THE EFFECT OF NITROGEN MUSTARDS ON ENZYMES AND TISSUE METABOLISM (1948) (65)
Variations in purine metabolism of cultured skin fibroblasts from patients with gout. (1968) (64)
Increased gene expression of Alzheimer disease beta-amyloid precursor protein in senescent cultured fibroblasts. (1991) (64)
Adult cystinosis--a benign disorder. (1966) (62)
Metabolic Cooperation between Genetically Marked Human Fibroblasts in Tissue Culture (1968) (62)
Regulation of de novo purine biosynthesis in human lymphoblasts. Coordinate control of proximal (rate-determining) steps and the inosinic acid branch point. (1976) (60)
The enzymatic defect in histidinemia. (1962) (60)
Lesch-Nyhan Syndrome: Preventive Control by Prenatal Diagnosis (1970) (60)
CLINICAL AND BIOCHEMICAL STUDIES ON TWO CASES OF HISTIDINEMIA. (1963) (59)
THE RENAL EXCRETION OF OXYPURINES. (1965) (58)
A new variant of maple syrup urine disease (branched chain ketoaciduria). Clinical and biochemical evaluation. (1970) (58)
Dietary protein in the genesis of hepatic coma. (1954) (58)
Xanthine phosphoribosyltransferase in man: relationship to hypoxanthine-guanine phosphoribosyltransferase. (1967) (57)
Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome. (1979) (56)
Detection of 5'-phosphoribosyl-4-(N-succinylcarboxamide)-5-aminoimidazole in urine by use of the Bratton-Marshall reaction: identification of patients deficient in adenylosuccinate lyase activity. (1986) (56)
Gout and uric acid metabolism. (1970) (56)
An enzymatic spectrophotometric method for the determination of homogentisic acid in plasma and urine. (1961) (53)
The adenosine‐like effect of exogenous cyclic AMP upon nucleotide and PP‐ribose‐P concentrations of cultured human lymphoblasts (1976) (52)
Effects of nicotinic acid on human fibroblast purine biosynthesis. (1972) (52)
THE INFLAMMATORY RESPONSE TO INJECTED MICROCRYSTALLINE MONOSODIUM URATE IN NORMAL, HYPERURICEMIC, GOUTY, AND UREMIC SUBJECTS. (1965) (51)
Cockayne's syndrome: report of a case with hyperlipoproteinemia, hyperinsulinemia, renal disease, and normal growth hormone. (1969) (51)
THE EFFECT OF PRETREATMENT WITH COLCHICINE ON THE INFLAMMATORY RESPONSE TO MICROCRYSTALLINE URATE: A MODEL FOR GOUTY INFLAMMATION. (1965) (51)
Evidence of a generalized metabolic defect in patients with hereditary chondrocalcinosis. Increased inorganic pyrophosphate in cultured fibroblasts and lymphoblasts. (1981) (50)
A rapid, enzymatic assay for measurement of inorganic pyrophosphate in biological samples. (1976) (50)
Biochemical comparisons of the adult and childhood forms of cystinosis. (1968) (50)
Xanthine stone formation. (1968) (50)
Cystinosis. Plasma cystine and cysteine concentrations and the effect of D-penicillamine and dietary treatment. (1968) (50)
Cytotoxic and metabolic effects of adenosine and adenine on human lymphoblasts. (1978) (50)
Suppression of metabolic accompaniments of phagocytosis by colchicine. (1965) (50)
Diagnostic significance of hyperuricemia in arthritis. (1961) (48)
Synthesis of phosphoribosylpyrophosphate in mammalian cells. (1979) (48)
Enzyme Defect in a Case of Xanthinuria (1964) (46)
Ochronosis: a report of a case and a review of literature. (1989) (45)
2,8-dihydroxyadenine urolithiasis: report of a case first diagnosed after renal transplant. (1988) (45)
Luminescent immobilized enzyme test systems for inorganic pyrophosphate: assays using firefly luciferase and nicotinamide-mononucleotide adenylyl transferase or adenosine-5'-triphosphate sulfurylase. (1991) (44)
Age-dependency of lymphocyte ecto-5'-nucleotidase activity. (1980) (44)
Measurement of free nucleotides in cultured human lymphoid cells using high pressure liquid chromatography. (1977) (44)
Genetic diseases of metabolism. (1972) (43)
Determination of the mutations responsible for the Lesch-Nyhan syndrome in 17 subjects. (1991) (43)
Intralysosomal cystine crystals in cystinosis. (1970) (43)
Adenine Therapy for Lesch-Nyhan Syndrome (1971) (42)
Evidence against the existence of guanosine and inosine kinases in human fibroblasts in tissue culture. (1969) (40)
Purine metabolism. (1975) (39)
Suppression of glycine-15N incorporation into urinary uric acid by adenine-8-13C in normal and gouty subjects. (1968) (39)
Expression of purine overproduction in a series of 8-azaguanine-resistant diploid human lymphoblast lines. (1974) (38)
Ouabain‐resistant human lymphoblastoid lines altered in the (Na+ + K+)‐dependent ATPase membrane transport system (1976) (38)
DESTRUCTIVE POLYARTHRITIS DUE TO A PHOTOCHROMOGENIC MYCOBACTERIUM. (1965) (38)
X-ray diffraction studies of the tophaceous deposits in gout. (1963) (37)
Regulation of human lymphoblast plasma membrane 5'-nucleotidase by zinc. (1982) (37)
Transport and Intracellular Fate of Cysteine-35S in Leukocytes from Normal Subjects and Patients with Cystinosis (1968) (37)
Insulin Secretion in Type I Glycogen Storage Disease (1969) (37)
Incorporation of 4-amino-5-imidazolecarboxamide-4-C13 into uric acid in the normal human. (1955) (37)
Adenosine deaminase deficiency and severe combined immunodeficiency disease. (1980) (36)
Role of glutamine in purine synthesis and in guanine nucleotide formation in normal fibroblasts and in fibroblasts deficient in hypoxanthine phosphoribosyltransferase activity. (1973) (35)
Genetic aspects of gout. (1974) (34)
Utilization of hypoxanthine, adenine and 4-amino-5-imidazole-carboxamide for uric acid synthesis in man. (1959) (34)
Metabolism of 6-phosphogluconic acid in liver and bone marrow. (1952) (33)
Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: preliminary report. (1970) (33)
Purine Metabolism in Man—II (1977) (32)
Inheritance of purine phosphoribosyltransferases in man. (1969) (32)
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants). (1976) (32)
Fructose-induced aberration of metabolism in familial gout identified by 31P magnetic resonance spectroscopy. (1990) (31)
Biochemical considerations of the renal damage of gout. (1966) (30)
Suppression of uric acid synthesis in the gouty human by the use of 6-diazo-5-oxo-L-norleucine. (1960) (30)
Purine metabolism in normal and thioguanine-resistant neuroblastoma. (1973) (30)
Increased pyrophosphate in fibroblasts and lymphoblasts from patients with hereditary diffuse articular chondrocalcinosis. (1981) (30)
The early diagnosis of cystinosis. (1969) (30)
Inorganic pyrophosphate and proteoglycan metabolism in cultured human articular chondrocytes and fibroblasts. (1976) (29)
Hyperuricemia, a concomitant of congenital vasopressin-resistant diabetes insipidus in the adult. (1971) (28)
Uricolysis by Human Leucocytes (1962) (28)
Lysosomal site of crystalline deposits in cystinosis as shown by ferritin uptake. (1970) (28)
Genetic defects in human purine and pyrimidine metabolism. (1982) (27)
Familial hyperglycinuria. New defect in renal tubular transport of glycine and imino acids. (1973) (27)
Quantitative immunoassay of adenosine deaminase in combined immunodeficiency disease. (1977) (26)
METABOLISM OF BIOGENIC AMINES IN NEUROBLASTOMA AND GLIOMA CELLS IN CULTURE 1 (1976) (26)
Ecto-5'-nucleotidase deficiency: association with adenosine deaminase deficiency and nonassociation with deoxyadenosine toxicity. (1981) (26)
Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency. (1986) (26)
Alcaptonuria; clinical staff conference at the National Institutes of Health. (1957) (24)
Failure of folic acid (pteroylglutamic acid) to affect hyperuricemia. (1980) (24)
In vitro stabilization of the unoccupied glucocorticoid receptor by adenosine 5'-diphosphate. (1983) (23)
Disorders of Purine and Pyrimidine Metabolism (1978) (23)
Accelerated purine biosynthesis de novo in skin fibroblasts deficient in hypoxanthine--guanine phosphoribosyltransferase activity. (1968) (23)
Alterations of inosinate branchpoint enzymes in cultured human lymphoblasts. (1985) (23)
The effect of 2-ethylamino-1,3,4-thiadiazole on the incorporation of glycine into urinary purines and uric acid in man. (1963) (23)
Hypoxanthine-guanine phosphoribosyltransferase mutant glioma cells: diminished monamine oxidase activity. (1976) (22)
Intracellular cystine content of leukocyte populations in cystinosis. (1970) (22)
Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures. (1971) (22)
A comparison of purine metabolism and nucleotide pools in normal and hypoxanthine-guanine phosphoribosyltransferase-deficient neuroblastoma cells. (1978) (22)
Benign cystinosis. The clinical, biochemical and morphologic findings in a family with two affected siblings. (1970) (22)
Intracellular 5-Phosphoribosyl-1-Pyrophosphate: Decreased Availability During Glutamine Limitation (1976) (22)
Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases. (1968) (22)
The preparation and identification of various adducts of oxidized homogentisic acid and the development of a new sensitive colorimetric assay for homogentisic acid. (1971) (21)
An in Vivo and in Vitro Evaluation of 1-β-D-Ribofuranosyl-1,2,4-triazole-3-carboxamidine: An Inhibitor of Human Lymphoblast Purine Nucleoside Phosphorylase (1980) (21)
The effect of adenosine on lymphoid cell proliferation and antibody formation. (1977) (21)
A long-term study of the absorption of large oral doses of folic acid. (1981) (21)
Synthesis of a Metabolic Product of Histidine (1954) (21)
Nature of the Defect in Alcaptonuria (1962) (20)
X-linked uric aciduria with neurological disease and self-mutilation: diagnostic test for the enzyme defect. (1968) (20)
Purine nucleotide reutilization by human lymphoblast lines with aberrations of the inosinate cycle. (1984) (20)
Biochemical characteristics of 8-azaguanine resistant human lymphoblast mutants selected in vitro. (1973) (19)
Excessive Uric Acid Production in the Human induced by 2-Ethylamino-1,3,4-thiadiazole (1959) (19)
The Role of Phosphoribosyltransferases in Purine Metabolism (1970) (19)
Lymphocyte ecto-5'-nucleotidase activity as a marker of B-cell maturation. (1979) (18)
[82] TPN-linked aldehyde dehydrogenase from yeast: CH3CHO + TPN+ + H2O → CH3COOH + TPNH + H+ (1955) (18)
Failure to detect consistent overincorporation of glycine-1-C14 into uric acid in primary gout. (1958) (18)
Increases in purine excretion and rate of synthesis by drugs inhibiting IMP dehydrogenase or adenylosuccinate synthetase activities. (1979) (17)
Use of the newer uricosuric agents in the management of gout. (1960) (17)
The enzyme defect in maple syrup urine disease (branched chain ketoaciduria). (2008) (17)
Answer to criticism of Morton and Lalouel. (1977) (17)
Thymidine as a chemotherapeutic agent: pharmacologic, cytokinetic, and biochemical studies in a patient with T-cell acute lymphocytic leukemia. (1980) (17)
Identification and measurement of cysteine-homocysteine mixed disulfide in plasma. (1968) (16)
The synthesis of glucose-6-phosphate and 6-phosphogluconate. (1951) (16)
Immunological aspects of purine metabolism. (1977) (16)
Conjunctival biopsy for the biochemical diagnosis of cystinosis. (1970) (16)
Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells. (1971) (16)
Urine uric acid to creatinine rtio--a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. (1968) (16)
Maple syrup urine disease: Branched-chain amino acid concentrations and metabolism in cultured human lymphoblasts (1976) (16)
Radiochemical assay for glutaminase and glutamic acid decarboxylase. (1972) (15)
Overview of Possible Relation of Defects in Purine Metabolism to Immune Deficiency a (1985) (15)
The pathogenesis of gout. (1961) (15)
A filtration assay specific for the determination of small quantities of L-glutamine. (1976) (15)
Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome (1973) (15)
[17] Preparation and processing of small samples of human material (1971) (14)
Increased concentrations of glycine in hypoxanthine-guanine phosphoribosyltransferase-deficient mouse neuroblastoma cells. (1976) (14)
Decreased Binding of 14C-Homogentisic Acid induced by Ascorbic Acid in Connective Tissues of Rats with Experimental Alcaptonuria (1970) (14)
Ecto-5'-nucleotidase activity in lymphoblastoid cell lines derived from heterozygotes for congenital X-linked agammaglobulinemia. (1980) (14)
Recent advances in the identification of enzyme abnormalities underlying excessive purine synthesis in man. (1975) (14)
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group. (1970) (13)
Purine metabolism in cultured human fibroblasts derived from patients deficient in hypoxanthine phosphoribosyltransferase, purine nucleoside phosphorylase, or adenosine deaminase. (1978) (13)
Gas chromatography--mass spectrometry studies of tetramethyl uric acids. (1973) (12)
Evaluation of the role of 5-phosphoribosyl-alpha-1-pyrophosphate synthetase in congenital hyperuricemia and gout: a simple isotopic assay and an activity stain for the enzyme. (1974) (12)
Chondrocyte growth inhibition induced by homogentisic acid and its partial prevention with ascorbic acid. (1989) (12)
Purine and pyrimidine nucleotide concentrations in cells with decreased hypoxanthine-guanine-phosphoribosyltransferase (HGPRT) activity. (1977) (12)
Plasma Concentrations of the Urate‐Binding Alpha1–2‐Globulin in Patients with Different Types of Primary Gout as Compared to Healthy Control Subjects (1972) (12)
Cholera toxin-peroxidase: changes in surface labeling of glioblastoma cells with increased time in tissue culture. (1976) (11)
GLIAL CELLS METABOLICALLY COOPERATE: A POTENIAL REQUIREMENT FOR GENE REPLACEMENT THERAPY: 102 (1985) (11)
Purine toxicity in human lymphoblasts. (1977) (10)
Purine biosynthesis in Chinese hamster cell mutants and human fibroblasts partially deficient in adenylosuccinate lyase. (1986) (10)
The development and use of an intravenous preparation of allopurinol. (1968) (10)
Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. (1970) (10)
A simple technique for the biochemical diagnosis of cystinosis. (1970) (9)
Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity (1978) (9)
The effect of nitrogen mustards on the respiration and fertilization of sea urchin sperm and eggs. (1948) (9)
Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology. (1980) (9)
Purine metabolism in thioguanine-resistant glioma cells. (1976) (8)
Purine synthesis and excretion in mutants of the WI-L2 human lymphoblastoid line deficient in adenosine kinase (AK) and adenine phosphoribosyltransferase (APRT). (1977) (8)
ELEVATED INTRACELLULAR GLYCINE ASSOCIATED WITH HYPOXANTHINE‐GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY IN GLIOMA CELLS 1 (1977) (8)
INCREASED CONCENTRATIONS OF GLYCINE IN HYPOXANTHINE‐GUANINE PHOSPHORIBOSYLTRANSFERASE‐DEFICIENT MOUSE NEUROBLASTOMA CELLS 1 (1976) (8)
Heterozygote studies in cystinosis. (1970) (8)
The present-day treatment of gout. (1961) (8)
Lesch-Nyhan Syndrome and the X-Linked Uric Acidurias (1972) (8)
Detection of Lesch‐Nyhan Syndrome Carriers: Analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography (1980) (8)
Oxipurinol-Associated Inhibition of Pyrimidine Synthesis in Human Lymphoblasts (1974) (8)
Elucidation of aberrant purine metabolism: application to hypoxanthine-guanine phosphoribosylstransferase- and adenosine kinase-deficient mutants, and IMP dehydrogenase- and adenosine deaminase-inhibited human lymphoblasts. (1980) (8)
Alcaptonuria and ochronotic arthritis. (1958) (7)
Physiologic disposition and uricosuric effect of a keto analog of oxyphenbutazone (G-29701). (1960) (7)
New prospects for understanding and control of genetic diseases. (1972) (7)
Contributions of Lesch-Nyhan syndrome to the understanding of purine metabolism (1989) (7)
Experience with detection of heterozygous carriers and prenatal diagnosis of Lesch-Nyhan disease. (1977) (7)
Molecular aspects of the Lesch-Nyhan syndrome. (1972) (7)
Separation of Krebs cycle intermediates on a low-bleed gas chromatographic column. Temperature dependence of methylene unit values. (1973) (6)
Biochemical Abnormalities in Hereditary Diseases (1962) (6)
Mental retardation, self-mutilation and hyperuricemia in females. (1968) (6)
Accumulation of deoxyribonucleotides as a possible mediator of immunosuppression in hereditary deficiency of adenosine deaminase. (1978) (6)
IDENTIFICATION OF L-CYSTINE CRYSTALS IN BONE MARROW BY X-RAY DIFFRACTION. (1965) (6)
Gas chromatography—mass spectrometry studies of hipuric acid derivatives (1973) (6)
Colorimetric assay of cystine using noradrenochrome. (1968) (5)
GLIOBLASTOMA CELLS SYNTHESIZE AND SECRETE THE ADHESIVE PROTEIN VITRONECTIN: 235 (1990) (5)
Toward a Unitary Concept of Gout (1966) (5)
Intergenomic complementation of two X-linked genes by hydridization of mutant human fibroblasts. (1969) (5)
Purine and pyrimidine nucleotides in some mutant human lymphoblasts. (1977) (5)
Uptake of α-ketoisocaproic acid in lymphoblast line WI-L2 (1977) (5)
Genetic and molecular basis of human hereditary diseases. (1967) (5)
Genetic considerations of gout. (1975) (4)
Dalmatian Dog Mutation in Man (1972) (4)
Immunoreactive adenosine deaminase (ADA) in cultured fibroblasts from patients with combined immunodeficiency disease. (1977) (4)
Increased PP-ribose-P synthetase activity: a genetic abnormality leading to excessive purine production and gout. (1973) (4)
Evaluation of Adenine Therapy for Lesch-Nyhan Syndrome (1970) (4)
The mechanism of inhibition and "reversal" of mitogen-induced lymphocyte activation in a model of purine-nucleoside phosphorylase deficiency. (1984) (4)
Interactions between energy metabolism and adenine nucleotide metabolism in human lymphoblasts. (1979) (4)
Defining serum requirements of culture media for use in studies of physiological effects of various genetic diseases. (1978) (4)
Cystine, cysteine, and glutathione metabolism in normal and cystinotic fibroblasts in vitro, and in cultured normal amniotic fluid cells. (1972) (4)
Gout and the regulation of purine biosynthesis. (1976) (4)
The mechanism of inhibition and "reversal" of mitogen-induced lymphocyte activation in a model of adenosine deaminase deficiency. (1984) (4)
Insertion of hypoxanthine phosphoribosyltransferase cDNA into human bone marrow cells by a retrovirus. (1986) (4)
Coordinate regulation of the proximal and distal steps of the pathway of purine synthesis de nono in WI-L2 human lymphoblasts. (1977) (4)
Gas chromatography-mass spectrometry studies of hippuric acid derivatives. I. Evaluation of methods for quantitative determination hippuric acid. A search for benzoylsarcosine excretion in normal urine. (1973) (4)
GENETIC DEFECTS IN HUMAN PURINE METABOLISM LEADING TO UROLITHIASIS (1976) (4)
Triphosphopyridine nucleotide-linked aldehyde dehydrogenase from yeast. (1953) (4)
Detection of human inborn errors of metabolism by examination of urinary metabolites. (1968) (4)
Preventive Control of the Lesch‐Nyhan Syndrome (1972) (4)
Reversion in expression of hypoxanthine‐guanine phosphoribosyltransferase in 6‐thioguanine resistant neuroblastoma: Evidence for reduced enzyme levels associated with unaltered catalytic activity (1977) (3)
Alterations in the activity of hypoxanthine and adenine phosphoribosyltransferase in patients with hyperuricaemia and gout. (1971) (3)
Pathogenic mechanisms in deficiencies of adenosine deaminase and purine nucleoside phosphorylase (1979) (3)
Panel discussion: hyperuricemia as a risk factor. (1977) (3)
Adenosine and guanosine metabolism during phytohemagglutinin induced transformation of human lymphocytes. (1977) (3)
Biochemistry of uric acid and its relation to gout. (1963) (3)
Processing of Alzheimer's disease-associated beta-amyloid precursor protein. (1990) (3)
Metabolism and toxicity of 9-beta-D-arabinofuranosyladenine in human malignant T cells and B cells in tissue culture. (1979) (3)
Effects of glutamine on purine metabolism in the lesch-Nyhan syndrome (1971) (2)
The clinical significance of hyperuricemia. (1967) (2)
Goals in gout. (1969) (2)
Collection and uses of lymphocyte cultures. (1978) (2)
Assay of glutamine phosphoribosylpyrophosphate amidotransferase using [1-14C]phosphoribosylpyrophosphate. (1983) (2)
Effects of oxipurinol on pyrimidine nucleotide synthesis in human lymphoblasts. (1975) (2)
The Study of Human Intermediary Purine Metabolism and Its Regulation (1966) (2)
An in vivo and in vitro evaluation of 1-beta-D-ribofuranosyl-1,2,4-triazole-3-carboxamidine: an inhibitor of human lymphoblast purine nucleoside phosphorylase. (1980) (2)
Uricolysis by human leukocytes. (1962) (2)
Zinc uptake by cultured human lymphoblasts (1986) (2)
Purine metabolism in cultured human fibroblasts derived from patients deficient in enzymes of the purine salvage pathway. (1978) (2)
An aberration of fructose metabolism in familial gout identified by 31P magnetic resonance spectroscopy of the liver. (1990) (2)
Synthesis of (14C)-ribose-5-phosphate and (14C)-phosphoribosylpyrophosphate and their use in new enzyme assays. (1984) (2)
Lesch-Nyhan syndrome. Management and treatment. (1968) (2)
Uniqueness of deoxyribonucleotide metabolism in human malignant T cell lines. (1979) (1)
Purine reutilization and synthesis de novo in APRT deficient long-term lymphocyte lines. (1978) (1)
Processing of Alzheimer's disease-associated β-amyloid precursor protein (2008) (1)
INSERTION OF HYPOXAKTHINE PHOSPHORIBOSYLTRANSFERASE (HPRT) cDNA INTO HUMAN BONE MARROW CELLS (BMC) A RETROVIRUS VECTOR: 75 (1985) (1)
Progress in understanding the mechanism of immunodeficiency disease associated with defects in purine metabolism. (1978) (1)
Acute Gout—A Study in Depth (1971) (1)
Altered deoxynucleoside triphosphate levels paralleling deoxyadenosine toxicity in adenosine deaminase inhibited human lymphocytes. (1980) (1)
Phosphoribosyltransferase levels of Maori subjects with gout. (1969) (1)
Thin-layer chromatography of L-carnosine and -alanine. (1971) (1)
Connective tissue and purine metabolism, and endocrinology (1978) (1)
Clinical and biochemical correlates of a new HPRT mutation. (1984) (1)
Activity of ecto-5'-nucleotidase in lymphoblastoid cell lines derived from carriers of congenital X-linked agammaglobulinemia. (1979) (1)
Role of the newer uricosuric agents in management of gout. (1961) (1)
Appendicitis in a child with cystinosis. (1968) (0)
Interleukin 1 ( 8 suppresses transforming growth factor-induced inorganic pyrophosphate ( PPj ) production and expression of the PPi-generating enzyme PC1 in human chondrocytes ( cytokines / cartilage / mineralization ) (2005) (0)
SERUM URATE VALUES CORRELATED WITH THE ESTIMATED PERCENTAGE OF SKIN INVOLVED WITH PSORIASIS (0)
The Relationship of Uric Acid to the Clinical Manifestations of Gout. (1962) (0)
Regulation of human lymphoblast ecto-5'-nucleotidase by zinc. (1984) (0)
A tribute to Dr. Alexander B. Gutman. (1975) (0)
PNAS Paper: Rules and Standard Practice (1990) (0)
Basic science aspects (1986) (0)
Substrate stabilization: genetically-controlled reciprocal relationship between two enzymes. (1971) (0)
Patents and literature (1985) (0)
Collection and Uses of Lymphocyte Cultures1 (1978) (0)
HumanPhosphoribosylpyrophosphate Synthetase: Increased EnzymeSpecific Activity inaFamilywithGoutandExcessive PurineSynthesis (structural mutation/genetic variation) (1973) (0)
Session IV: Gout with Renal Complications (1966) (0)
The biochemical mechanism of metabolic cooperation. (1986) (0)
Diseases of Uric Acid Metabolism. (1971) (0)
Heberden Society (1970) (0)
PurineMetabolism inNormalandThioguanine-Resistant Neuroblastoma (1973) (0)
[Colchicine in acute gouty arthritis: clinical and metabolic studies]. (1966) (0)
Biochemistry of uric acid and its relation to gout. (1963) (0)
Directions and prospects for future research on gout. (1975) (0)
Inert gas eliminator for high altitude oxygen apparatus. No. 2,456,606. (1948) (0)
Substrate inhibition of adenosine phosphorylation in adenosine deaminase deficiency and adenosine-mediated inhibition of PP-ribose-P dependent nucleotide synthesis in hypoxanthine phosphoribosyltransferase deficient erythrocytes (1988) (0)
Biochemical genetics of human disease. (1976) (0)
Carbohydrate, amino acid and lipid metabolism (1978) (0)
ADHESION RECEPTOR ANTIGENS EXPRESSED BY GLIOBLASTOMA: 169 (1989) (0)
Purine Metabolism in Man—II (1977) (0)
Clinical aspects including molecular genetics (1986) (0)
Prospects for Genetic Engineering in the Control of Human Hereditary Diseases. (1973) (0)
Uptake of alpha-ketoisocaproic acid in lymphoblast line WI-L2. (1977) (0)
Editorial help (2004) (0)
The effect of thio purines upon lymphocytes lacking enz hypo xanthine guanine phosphoribosyl transferase abstract 6 mercapto purine thio inosinic acid human (1968) (0)
Disorders of Purine and Pyrimidine Metabolism Basic and Clinical Considerations (1982) (0)
Newer Developments in Tissue Culture: Further Aid in the Study of Inborn Errors of Metabolism (1977) (0)
STUDIES OF PURINE BIOSYNTHESIS IN CHINESEHAMSTER CELL MDTANTS DEFICIENT IN ADENYLOSUCCINASE: 108 (1985) (0)
Selected aspects of the aetiology, pathogenesis and treatment of disorders of purine metabolism. (1971) (0)
Increased geneexpression ofAlzheimer disease 18-amyloid precursor protein insenescent cultured fibroblasts (1991) (0)
HUMAN MALIGNANT T CELLS AND B CELLS IN TISSUE CULTURE (1980) (0)
Metabolic Basis of Renal Lithiasis from Overproduction of Uric Acid1 (1973) (0)
Metabolic aberrations in gout. (1970) (0)
Biochemical and genetic studies of an X-linked neurological disease (The Lesch-Nyhan syndrome). (1971) (0)
Future Directions in Aging Research (1985) (0)
Lesch-Nyhan syndrome: preventive control. (1970) (0)

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