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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

  2. Marinius Duran

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

  3. K. Michael Gibson

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

  • 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. Front Matter

    Pages I-XXVI
    Download chapter PDF

  2. Laboratory Strategies in Biochemical Genetics

    • R.J. Pollitt
    Pages 1-6

  3. Quality Control and Quality Assurance in the Biochemical Genetic Laboratory

    • Jim R. Bonham
    Pages 7-22

  4. Simple Metabolic Screening Tests

    • K. Michael Gibson, Marinus Duran
    Pages 23-33

  5. Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate

    • Anne J. Vassault
    Pages 35-51

  6. Amino Acids

    • Marinus Duran
    Pages 53-89

  7. Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine

    • Brian Fowler
    Pages 91-114

  8. GABA, Homocarnosine, and β-Alanine

    • Erwin E.W. Jansen, Cornelis Jakobs, K. Michael Gibson
    Pages 115-128

  9. Pipecolic Acid

    • Marinus Duran
    Pages 129-135

  10. Organic Acids

    • Piero Rinaldo
    Pages 137-169

  11. Acylcarnitines, Including In Vitro Loading Tests

    • Dietrich Matern
    Pages 171-206

  12. Plasmalogens and Polyunsaturated Fatty Acids

    • Marinus Duran, Ronald J.A. Wanders
    Pages 207-220

  13. Very-Long-Chain Fatty Acids and Phytanic Acid

    • Ronald J.A. Wanders, Marinus Duran
    Pages 221-231

  14. Oxalate, Glycolate, Glycerate, Sulfate, and Citrate

    • Nenad Blau
    Pages 233-243

  15. Glycerol and Glycerol Phosphates

    • Katrina M. Dipple, Edward R.B. McCabe
    Pages 245-251

  16. Biotinidase

    • Terttu Suormala, Matthias Baumgartner, Brian Fowler
    Pages 253-264

  17. Mitochondrial Respiratory Chain

    • Pierre Rustin
    Pages 265-286

  18. Mucopolysaccharides

    • Zoltan Lukacs
    Pages 287-324

  19. Oligosaccharides

    • Adrian C. Sewell
    Pages 325-333

  20. Sialic Acid

    • Frans W. Verheijen
    Pages 335-349
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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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