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Purine and Pyrimidine Metabolism in Man X

  • Book
  • © 2002

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Editors:
  1. Esther Zoref-Shani

    1. Tel-Aviv University, Tel-Aviv, Israel

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  2. Oded Sperling

    1. Tel-Aviv University, Tel-Aviv, Israel
      Rabin Medical Center, Petah-Tikva, Israel

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    You can also search for this editor in PubMed   Google Scholar

Part of the book series: Advances in Experimental Medicine and Biology (AEMB, volume 486)

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Table of contents (76 chapters)

  1. Front Matter

    Pages i-xvi
    Download chapter PDF

  2. Inborn Errors of Purine Metabolism

    1. Purine and Pyrimidine Metabolism Between Millennia: What has been Accomplished, What has to be Done?

      • Georges Van Den Berghe
      Pages 1-4

    2. Cell Type-Specific Differential Expression of Human PRPP Synthetase (PRPS) Genes

      • Michael A. Becker, Maqbool Ahmed
      Pages 5-10

    3. Mutations in the Hypoxanthine-Guanine Phosphoribosyltransferase Gene in Spanish HPRT Deficient Families

      • R. J. Torres, F. A. Mateos, J. Molano, B. S. Gathoff, J. P. O’Neill, R. M. Gundel et al.
      Pages 11-14

    4. The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency

      • Juan G. Puig, Rosa J. Torres, Felicitas A. Mateos, Teresa Ramos, Antonio S. Buno, Joaquin Arcas
      Pages 15-21

    5. Deletion in the Hypoxanthine Phosphoribosyltransferase Gene Caused by Alu-Alu Recombination in Two Japanese Patients With Lesch-Nyhan Syndrome

      • Makiko Mizunuma, Shin Fujimori, Kiyoko Kaneko, Naoyuki Kamatani
      Pages 23-27

    6. Novel Genetic Mutations Responsible for the HPRT Deficiency and the Clinical Phenotypes in Japanese

      • Yasukazu Yamada, Noriko Nomura, Hiroshi Kitoh, Nobuaki Wakamatsu, Nobuaki Ogasawara
      Pages 29-33

    7. Adenoviruses Encoding HPRT Correct the Biochemical Abnormalities Fully Only in HPRT-Deficient Human Cell Lines: Importance of Species Differences

      • Tom Southgate, Derek Bain, Lynette D. Fairbanks, Adrian Morelli, Adroana Larregina, H Anne Simmonds et al.
      Pages 35-40

    8. Biochemical and Immunological Abnormalities in Purine Nucleoside Phosphorylase Deficient Mice

      • Enrico Arpaia, Yiping Gu, Ilan Dalal, Susan Kelly, Michael Hershfield, Chaim M. Roifman et al.
      Pages 41-45

    9. Carrier Erythrocyte Entrapped Adenosine Deaminase Therapy in Adenosine Deaminase Deficiency

      • Bridget E. Bax, Murray D. Bain, Lynette D. Fairbanks, H. Anne Simmonds, A. David Webster, Ronald A. Chalmers
      Pages 47-50

    10. ADA Activity and dATP Levels in Erythrocytes after Bone Marrow Transplantation

      • L. D. Fairbanks, H. A. Simmonds, J. A. Duley, H. B. Gaspar, T. Flood, C. A. Steward
      Pages 51-55

    11. Adenosine Deaminase-Deficient Mice: Models for the Study of Lymphocyte Development and Adenosine Signaling

      • Melissa B. Aldrich, Michael R. Blackburn, Surjit K. Datta, Rodney E. Kellems
      Pages 57-63

    12. Inhibition of Fetal Thymic Caspases Abrogates the Consequences of Adenosine Deaminase Deficiency

      • C. van de Justin Wiele, Scott W. Hooker, Aletha B. Laurent, James G. Vaughn, Michael R. Blackburn, Rodney E. Kellems et al.
      Pages 65-70

    13. Erythrocyte AMP Deaminase Deficiency in Japanese: A Compound Heterozygote Responsible for the Complete Deficiency

      • Yasukazu Yamada, Haruko Goto, Nobuaki Ogasawara
      Pages 71-74

    14. Effect of Uridine Administration to a Patient with Adenylosuccinate Lyase Deficiency

      • Costantino Salerno, Carlo Crifo, Paolo Curatolo, Francesca Ciardo
      Pages 75-78

    15. Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology

      • Sandrine Marie, Valerie Race, M. Françoise Vincent, Georges Van Den Berghe
      Pages 79-82

    16. Polymorphic Markers in the XDH Gene as Diagnostic Tools for Typing Classical Xanthinuria

      • Ayala Lagziel, David Levartovsky, Oded Sperling, Kimiyoshi Ichida, Hava Peretz
      Pages 83-86

    17. NAPDD Patients Exhibit Altered Electrophoretic Mobility of Cytosolic 5′ Nucleotidase

      • Matthew Trifilo, Theodore Page
      Pages 87-90

    18. Purines, Lactate and Myo-Inositol in CSF Might Reflect Excitotoxicity in Inherited Metabolic Disorders

      • Alexandra Latini, Laura Larovere, Raquel Dodelson De Kremer
      Pages 91-95

    19. Cerebrospinal Fluid Purines, Pyrimidines, Organic Acids and Amino Acids in Neonatal Citrullinaemia

      • Laura Larovere, Alexandra Latini, Catalina Depetris-Boldini, Carlos E. Coronel, Raquel Dodelson De Kremer
      Pages 97-101
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Keywords

About this book

th This volume contains articles presented at the X International Symposium on Purines and Pyrimidines in Man, held on May 14 19, 2000 in Tel Aviv, Israel. The first symposium in this series took place in Tel Aviv in 1973. Since then, the symposium has been held every three years in different parts of the world, including Europe, USA and Japan. The participants, in this series of symposia, are characterised by a wide interest in the various aspects of purines and pyrimidines in man, which include biochemistry, genetics, pharmacology, physiology, clinics, etc. Presentations in the symposia include clarification of metabolic pathways, characterisation of enzyme structure and kinetics and discoveries of new inborn errors of metabolism and suggestions for new therapeutic approaches for these inborn errors. In addition, development of new purine and pyrimidine derivatives for the treatment of cancer and viral diseases, and many more subjects of mutual interest were brought to the fore. With the development of therapeutic means and of new research tools, we have witnessed changes in the areas of interest. The interest in gout and uric acid urolithiasis has lessened, whereas molecular aspects, the role of purine and pyrimidine substances in neurotransmission and in purinergic signaling appear to gain greater interest. The articles, included in this volume, contain new data pertaining to the various aspects detailed above.

Editors and Affiliations

  • Tel-Aviv University, Tel-Aviv, Israel

    Esther Zoref-Shani, Oded Sperling

  • Rabin Medical Center, Petah-Tikva, Israel

    Oded Sperling

Bibliographic Information

  • Book Title: Purine and Pyrimidine Metabolism in Man X

  • Editors: Esther Zoref-Shani, Oded Sperling

  • Series Title: Advances in Experimental Medicine and Biology

  • DOI: https://doi.org/10.1007/b113056

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Book Archive

  • Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Science+Business Media, LLC, part of Springer Nature 2002

  • Hardcover ISBN: 978-0-306-46515-4Published: 31 January 2001

  • Softcover ISBN: 978-1-4419-3353-9Published: 06 December 2010

  • eBook ISBN: 978-0-306-46843-8Published: 11 April 2006

  • Series ISSN: 0065-2598

  • Series E-ISSN: 2214-8019

  • Edition Number: 1

  • Number of Pages: XVII, 424

  • Topics: Biochemistry, general, Medical Biochemistry, Cancer Research

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