2008

Laboratory Guide to the Methods in Biochemical Genetics

Editors:

ISBN: 978-3-540-76697-1 (Print) 978-3-540-76698-8 (Online)

Table of contents (36 chapters)

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  1. Front Matter

    Pages I-XXVI

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    Book Chapter

    Pages 1-6

    Laboratory Strategies in Biochemical Genetics

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    Book Chapter

    Pages 7-22

    Quality Control and Quality Assurance in the Biochemical Genetic Laboratory

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    Pages 23-33

    Simple Metabolic Screening Tests

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    Book Chapter

    Pages 35-51

    Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate

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    Book Chapter

    Pages 53-89

    Amino Acids

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    Book Chapter

    Pages 91-114

    Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine

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    Book Chapter

    Pages 115-128

    GABA, Homocarnosine, and β-Alanine

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    Book Chapter

    Pages 129-135

    Pipecolic Acid

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    Book Chapter

    Pages 137-169

    Organic Acids

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    Book Chapter

    Pages 171-206

    Acylcarnitines, Including In Vitro Loading Tests

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    Book Chapter

    Pages 207-220

    Plasmalogens and Polyunsaturated Fatty Acids

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    Book Chapter

    Pages 221-231

    Very-Long-Chain Fatty Acids and Phytanic Acid

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    Book Chapter

    Pages 233-243

    Oxalate, Glycolate, Glycerate, Sulfate, and Citrate

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    Book Chapter

    Pages 245-251

    Glycerol and Glycerol Phosphates

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    Book Chapter

    Pages 253-264

    Biotinidase

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    Book Chapter

    Pages 265-286

    Mitochondrial Respiratory Chain

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    Book Chapter

    Pages 287-324

    Mucopolysaccharides

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    Book Chapter

    Pages 325-333

    Oligosaccharides

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    Book Chapter

    Pages 335-349

    Sialic Acid

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    Book Chapter

    Pages 351-378

    Glycosphingolipids

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