Purine and Pyrimidine Metabolism in Man X

Editors:

ISBN: 978-0-306-46515-4 (Print) 978-0-306-46843-8 (Online)

Table of contents (76 chapters)

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  1. Inborn Errors of Purine Metabolism

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      Pages 1-4

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

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      Pages 5-10

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

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      Pages 11-14

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

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      Pages 15-21

      The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency

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      Pages 23-27

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

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      Pages 29-33

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

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      Pages 35-40

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

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      Pages 41-45

      Biochemical and Immunological Abnormalities in Purine Nucleoside Phosphorylase Deficient Mice

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      Pages 47-50

      Carrier Erythrocyte Entrapped Adenosine Deaminase Therapy in Adenosine Deaminase Deficiency

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      Pages 51-55

      ADA Activity and dATP Levels in Erythrocytes after Bone Marrow Transplantation

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      Pages 57-63

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

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      Pages 65-70

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

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      Pages 71-74

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

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      Pages 75-78

      Effect of Uridine Administration to a Patient with Adenylosuccinate Lyase Deficiency

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      Pages 79-82

      Adenylosuccinate Lyase Deficiency: From the Clinics to Molecular Biology

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      Pages 83-86

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

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      Pages 87-90

      NAPDD Patients Exhibit Altered Electrophoretic Mobility of Cytosolic 5′ Nucleotidase

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      Pages 91-95

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

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      Pages 97-101

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

  2. Purine Metabolism

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      Pages 103-106

      Purine Nucleotide Catabolism in Rat Liver

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