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Laboratory Guide to the Methods in Biochemical Genetics

  • Book
  • © 2008

Overview

Editors:
  1. Nenad Blau

    1. Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zurich, Switzerland

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    You can also search for this editor in PubMed   Google Scholar

  2. Marinius Duran

    1. Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Amsterdam, Netherlands

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    You can also search for this editor in PubMed   Google Scholar

  3. K. Michael Gibson

    1. Dept. of Molecular and Medical Genetics, Oregon Health & Science University, Portland, USA

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Comprehensive and complete methods-driven manual
  • Serves experts and beginners alike
  • Includes supplementary material: sn.pub/extras

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Table of contents (36 chapters)

  1. Glycosphingolipids

    • Ben J.H.M. Poorthuis, Johannes M.F.G. Aerts
    Pages 351-378

  2. Congenital Disorders of Glycosylation

    • Christian Körner, JĂĽrgen LĂĽbbehusen, Christian Thiel
    Pages 379-416

  3. Enzymes and Metabolites of Carbohydrate Metabolism

    • Nils Bosshard, Beat Steinmann
    Pages 417-471

  4. Polyols

    • Nanda Verhoeven-Duif, Mirjam M.C. Wamelink, Cornelis Jakobs
    Pages 473-482

  5. Diagnosis of Inherited Defects of Cholesterol Biosynthesis

    • Hans Waterham, Marinus Duran
    Pages 483-495

  6. Lipoproteins

    • Martin Hersberger, Lucia Rohrer, Arnold von Eckardstein
    Pages 497-548

  7. Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry

    • Cedric Shackleton
    Pages 549-605

  8. Bile Acids

    • Giorgio Federici
    Pages 607-664

  9. Pterins and Related Enzymes

    • Nenad Blau, Beat Thöny
    Pages 665-701

  10. Biogenic Amines

    • Simon J.R. Heales
    Pages 703-715

  11. Folates

    • Nenad Blau, Thomas Opladen
    Pages 717-724

  12. Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry

    • AndrĂ© B.P. van Kuilenburg, Arno van Cruchten, Nico G.G.M. Abeling
    Pages 725-737

  13. Creatine and its Metabolites

    • Eduard A. Struys, Nanda Verhoeven-Duif, Cornelis Jakobs
    Pages 739-749

  14. Porphyrins, Porphobilinogen, and δ-Aminolevulinic Acid

    • Elisabeth I. Minder, Xiaoye Schneider-Yin
    Pages 751-780

  15. Trimethylaminuria

    • Ron A. Wevers, Udo F.H. Engelke
    Pages 781-792

  16. A Tandem Mass Spectrometry Primer for Metabolite Disease Detection

    • Donald H. Chace
    Pages 793-803

  17. Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders

    • Johannes Zschocke, Bart Janssen
    Pages 805-829

  18. Back Matter

    Pages 831-860
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Keywords

Editors and Affiliations

  • Division of Clinical Chemistry and Biochemistry, University Children’s Hospital, Zurich, Switzerland

    Nenad Blau

  • Academic Medical Centre, Lab. Genetic Metabolic; Diseases Fo-224, University Amsterdam, Amsterdam, Netherlands

    Marinius Duran

  • Dept. of Molecular and Medical Genetics, Oregon Health & Science University, Portland, USA

    K. Michael Gibson

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