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Purine and Pyrimidine Metabolism in Man V
Part A: Clinical Aspects Including Molecular Genetics
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Main description:

The Fifth International Symposium on Human Purine and Pyrimidine Metabolism was held in San Diego, California (U. S. A. ) in July and August of 1985. Previous meetings in this series were held in Tel Aviv (Israel), Baden (Austria), Madrid (Spain) and Maastricht (The Netherlands). The proceedings of each of these meetings were published by Plenum. The next meeting will be in Japan. This Symposium differed from those that went before in that it per mitted us to honor Dr. J. E. Seegmiller, Professor of Medicine at the University of California San Diego, for his many contributions to our understanding of purine metabolism in man. This publication is dedicated as a Festschrift to Jay. Dr. Richard W. E. Watts delivered the keynote address outlining in scholarly fashion the history of Dr. Seegmiller's accomplishments in research on purine metabolism and the great number of currently active scientists in this field who have worked with him. This address is published as the first contribution to Volume I. Dr. Dewitt Stetten, Jr. , was scheduled to be the speaker at our banquet. Unfortunate ly, he could not be with us. Dr. Seegmiller has written an appreciation of Dr. Stetten and his contributions to our field, and this has been pub lished following Dr. Watts' paper. The growth of knowledge in purine and pyrimidine metabolism continues to be exponential. The variety of subjects included in these volumes is impressive.


Contents:

I. Opening Remarks.- Jarvis Edwin Seegmiller: His Contribution to Research on Purine Metabolism, a Background to the Fifth International Symposium on Human Purine and Pyrimidine Metabolism - July 28th to August 1st, 1985, San Diego, California, U.S.A..- An Appreciation of DeWitt Stetten Jr..- II. Purine and Pyrimidine Related Disorders Other Than HPRT Deficiency.- Detection of Inherited Adenylosuccinase Deficiency by Two-Dimensional Thin Layer Chromatography of Urinary Imidazoles.- Adenylosuccinase Deficiency.- The Prevalence of Purine Metabolic Disorders in Japan.- Common Altered Characteristics of Mutant Enzymes from Patients Society Society with Japanese Type APRT Deficiencies.- A New Family with APRT Partial Deficiency: Studies on Purine and Uric Acid Metabolism.- PRPP Synthetase Superactivity in Lymphoblast Lines.- Inherited Phosphoribosylpyrophosphate Synthetase Superactivity Due to Aberrant Inhibitor and Activator Responsiveness.- Hereditary Orotic Aciduria: Further Biochemistry.- Orotic Aciduria, Homocystinuria, Forminoglutamic Aciduria, and Megaloblastosis Associated with the Formiminotransferase/Cyclodeaminase Deficiency.- Dihydrothymine Dehydrogenase Deficiency in a Family, Leading to Elevated Levels of Uracil and Thymine.- Adenosine Deaminase Deficiency and Chondro-osseous Dysplasia.- Adenosine Deaminase Activity in a Series of 19 Patients with the Diamond-Blackfan Syndrome.- Correlations Between Purine Levels, Clinical and Immunological Status in ADA Deficiency.- Usefulness of Intact Erythrocyte Studies in the Diagnosis of Inherited Purine and Pyrimidine Defects.- Source and Fate of Circulating Pyrimidines.- Effect of Fructose Infusion in Hereditary Xanthinuria.- Deficiency of Erythrocyte Type Isozyme of AMP Deaminase in Human.- Cytidine Deaminase Deficiency in a Child with Combined Immunodeficiency: More Than a Coincidence?.- Uridine Monophosphate Kinase and Susceptability to Invasive Haemophilus Influenzae Type B Disease.- Investigation of Purine Utilization in Cultured Fibroblasts, Amniocytes and Chorionic Villi: an Attempt Towards Understanding Clinical Variability in Lesch Nyhan Syndrome.- Ecto-Nucleoside Triphosphate Pyrophosphohydrolase Activity and Calcium Pyrophosphate Dihydrate Crystal Deposition Disease.- III. HPRT Deficiency and Lesch-Nyhan Disease.- Diagnosis of Lesch-Nyhan Heterozygotes by Peripheral Blood.- HGPRT Deficiency with Normal Erythrocyte PRPP and APRT Activity.- Bone Marrow Transplantation in Lesch-Nyhan Disease.- Insertion of Hypoxanthine Phosphoribosyltransferase cDNA into Human Bone Marrow Cells by a Retrovirus.- Biochemical and Genetic Properties of HPRTCape Town.- The Biochemical Mechanism of Metabolic Cooperation.- Stabilization Against Haemolysis During Haemodialysis of a Mutant HPRT.- Hypoxanthine and Tetrahydrobiopterin Treatment of a Patient with Features of the Lesch-Nyhan Syndrome.- A Case of Lesch Nyhan Syndrome with Delayed Onset of Self Mutilation: Search for Abnormal Biochemical, Immunological and Cell Growth Characteristics in Fibroblasts and Neurotransmitters in Urine.- IV. Studies of Genetic Disease at the Molecular Level.- The Human Gene for Adenosine Deaminase.- Expression Defects of Mutant Human Adenosine Deaminase.- Expression of Murine ADA cDNA in Bacterial and Mammalian Cells.- Expression of Human and Mouse HPRT Minigenes.- Gene Transfer, Amplification and an Analysis of Mutants in the UMP Synthase Gene.- Sequence of the E. Coli APRT Gene.- Detection of mRNA for Adenosine Deaminase Using Biotinylated Probes.- Selection and Characterization of APRT Heterozygotes of Mouse L-5178Y Cells.- Analysis of the Transcriptional Regulatory Sequences in the Cho APRT Gene.- Studies on the Organization and Structure of Genes and Enzymes of Purine Synthesis in Animals and Man.- A Study of Adenosine Deaminases in Human Sera.- Kinetic Properties of Human Erythrocyte Adenosylhomocysteinase.- Immunopurinogenic Enzymatic Activity in the Acquired Immunodeficiency Syndrome.- Comparison of Surface Differentiation Antigens Betweeen HGPRT-Positive and Negative T-Cells from Two Lesch-Nyhan Heterozygotes.- V. Gout.- How Can One Define Urate Overproduction in Man?.- Impact of Associated Medical Conditions on Clinical Features of Gout.- Corrected Clearance Identifies Underexcretion of Uric Acid in a Gouty Kindred.- Diminshed Tubular Secretion of Urate in Gout not Dependent on Serum Urate Levels.- Intermittent Control of Hyperuricemia in the Treatment of Gout.- Transitional Urate Crystals: A Factor in Gouty Arthritis?.- Relationship Between Lipid and Purine Metabolism: The Behavior of Fatty Acid in Plasma Triglycerides of Gouty Patients.- Sex Differences in Uric Acid Metabolism in Adults: Evidence for a Lack of Influence of Estradiol-17?(E2).- The Stabilization of Ascorbic Acid by Uric Acid.- Primary Gout in Aging Patients.- Study to Compare the Relative Hyperuricaemic Effects of Frusemide and Bumetanide.- Study of the Effect of Hypouricaemic Therapy on Serum Lipid Levels in Gout Patients.- Zinc-Mediated Urate Binding to Human Albumin.- Hyperuricemia as Possible Diagnostic Aid to Factitious-Bartter's Syndrome.- Hypouricemia Due to Renal Urate Wasting: Different Types of Tubular Transport Defects.- Renal Handling of Uric Acid Under Methyclothiazide Alone or Associated with Triamterne.- The "Switch-Off" Mechanism of Spontaneous Resolution of Acute Gout Attack.- The Excretion of Oxalic Acid in Gouty Patients.- Urate Binding Globulin: Specific Antibody Preparation.- The Sex Steroids Influence on Uric Acid Binding to Human Plasma Proteins.- Spontaneous Variations in Renal Handling of Uric Acid.- Uric Acid Metabolism in Psoriasis.- Urate Oxidase Encapsulated in Erythrocytes.- Deamination of Guanine to Xanthine: A Metabolic Pathway of Underestimated Importance in Human Purine Catabolism?.- Frequency of Intraarticular Monosodium Urate (MSU) Crystals in Asymptomatic Hyperuricemic Subjects.- VI. Allopurinol.- The Use and Abuse of Allopurinol in Renal Failure, The Tumour Lysis Syndrome and HGPRT Deficiency.- Dose Dependency of the Uric Acid Lowering Effects of Allopurinol in the Presence and Absence of Dietary Purines.- Allopurinol-l-Riboside Formation and HGPRT-Deficiency.- Urinary Oxypurinol-l-Riboside Excretion and Allopurinol-Induced Oroticaciduria.- Kinetics of Allopurinol Turnover After I.V. Injection in Man and Its Use as a Means to Assess Liver Function.- The Effect of Allopurinol on Cerebral Spinal Fluid (CSF) Purines in Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency Syndromes.- A Comparative Study of Allopurinol and Pentostam in the Treatment of Visceral Leishmaniasis.- VII. Hematology/Oncology.- Effects of Methotrexate on the Intracellular Nucleotide Pools and Its Role in Combination Chemotherapy.- Erythrocyte GTP Depletion in PNP Deficiency Presenting with Haemolytic Anaemia and Hypouricaemia.- Modulation of Polymorphonuclear Leukocyte Function by Adenosine Analogues.- Induction of Complete Remission in T-Cell Acute Lymphoblastic Leukemia with Deoxycoformycin (dcf) and 9-?-D-Arabinofuranosyladenine (Ara-A).- Effect of Dietary Nucleotides on Lymphocyte Maturation.- VIII. Adenosine Deaminase and its Inhibition.- Deoxy-ATP Accumulation in Adenosine Deaminase-Inhibited Human B and T Lymphocytes.- Changes in Lymphocyte Adenosine Deaminase and Purine Nucleoside Phosphorylase Levels in Lung Cancer After Radical Surgery.- B-Lymphocytes, Thymocytes and Platelets Accumulate High dATP Levels in Simulated ADA Deficiency.- Decreased Methionine Synthesis in Purine Nucleoside Treated T and B Lymphoblasts: Reversal by Homocysteine.- The Effects of ADA Inhibition on B Cell Differentiation in the Rat.- Phosphorylation of Purine Deoxynucleosides in Human T- and B-Lymphocytes.- Role of dATP in the Inhibition of Nucleic Acid Synthesis in Isolated Nuclei.- The Inhibitory Effects of Deoxyadenosine and Deoxyguanosine on In Vitro Lymphocyte Function Are Expressed at Different Stages of Lymphocyte Activation.- Inhibition of 3H-Thymidine Incorporation by Guanosine and Deoxyguanosine in Human Lymphoid Cells.- Biphasic Effect of Adenosine on Cell Growth and Cell Cycle of Human Lymphoid Cell Lines.- Purine Ribonucleotide and Deoxyribonucleotide Catabolism in Lymphocytes.- Intracellular Purine and Pyrimidine Nucleotide Pools of Human T and B Lymphocytes.- IX. Purine and Pyrimidine Levels in Biological Fluids.- Dipyrimadole and 8-Aminoguanosine Inhibition of Nucleoside Metabolism in Rat Blood In Vitro.- HPLC Determination of Adenosine, Inosine and Hypoxanthine Levels in Human Term Placenta.- Post-Mortem Oxypurine Concentrations in the CSF.- A Single System for the Evaluation of Purine and Pyrimidine Nucleosides and Bases Together with Their Analogues in Biological Fluids.- Effect of High Altitude and Acetazolamide on Hunman Serum and Urine Purines.- Contributors.


PRODUCT DETAILS

ISBN-13: 9781468451061
Publisher: Springer (Springer-Verlag New York Inc.)
Publication date: July, 2012
Pages: 720
Weight: 1200g
Availability: Available
Subcategories: Biochemistry
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