2003

Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases

ISBN: 978-3-642-62709-5 (Print) 978-3-642-55878-8 (Online)

Table of contents (41 chapters)

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  1. Front Matter

    Pages I-XXXVII

  2. Approach to Diagnosis

    1. Front Matter

      Pages 1-1

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      Book Chapter

      Pages 3-10

      Simple Tests in Urine and Blood

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      Book Chapter

      Pages 11-26

      Amino Acid Analysis

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      Book Chapter

      Pages 27-44

      Organic Acid Analysis

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      Book Chapter

      Pages 45-55

      Miscellaneous Analyses

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      Book Chapter

      Pages 57-75

      Tandem Mass Spectrometry in Clinical Diagnosis

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      Book Chapter

      Pages 77-85

      Proton NMR Spectroscopy of Body Fluids

  3. Disorders

    1. Front Matter

      Pages 87-87

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      Book Chapter

      Pages 89-106

      Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

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      Book Chapter

      Pages 107-122

      Disorders of Neurotransmitter Metabolism

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      Pages 123-140

      Disorders of GABA, Glycine, Serine and Proline

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      Book Chapter

      Pages 141-153

      Disorders of Tyrosine Degradation

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      Book Chapter

      Pages 155-164

      Disorders of Histidine Metabolism

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      Book Chapter

      Pages 165-189

      Disorders of Leucine Metabolism

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      Book Chapter

      Pages 191-213

      Disorders of Valine-Isoleucine Metabolism

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      Book Chapter

      Pages 215-232

      Various Organic Acidurias

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      Book Chapter

      Pages 233-242

      Disorders of the γ-Glutamyl Cycle

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      Book Chapter

      Pages 243-260

      Disorders of Sulfur Amino Acids

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      Book Chapter

      Pages 261-276

      Inherited Hyperammonemias

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      Book Chapter

      Pages 277-299

      Disorders of Ornithine, Lysine and Tryptophan

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      Book Chapter

      Pages 301-308

      Defective Transcellular Transport of Amino Acids

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      Book Chapter

      Pages 309-334

      Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Handling

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