2006

Inborn Metabolic Diseases

Diagnosis and Treatment

ISBN: 978-3-540-28783-4 (Print) 978-3-540-28785-8 (Online)

Table of contents (43 chapters)

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  1. Front Matter

    Pages I-XXII

  2. Diagnosis and Treatment: General Principles

    1. Front Matter

      Pages 1-1

    2. No Access

      Book Chapter

      Pages 3-48

      A Clinical Approach to Inherited Metabolic Diseases

    3. No Access

      Book Chapter

      Pages 49-57

      Newborn Screening for Inborn Errors of Metabolism

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      Book Chapter

      Pages 59-69

      Diagnostic Procedures: Function Tests and Postmortem Protocol

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      Book Chapter

      Pages 71-79

      Emergency Treatments

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      Book Chapter

      Pages 81-97

      Treatment: Present Status and New Trends

  3. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 99-99

    2. No Access

      Book Chapter

      Pages 101-119

      The Glycogen Storage Diseases and Related Disorders

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      Book Chapter

      Pages 121-130

      Disorders of Galactose Metabolism

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      Book Chapter

      Pages 131-134

      Disorders of the Pentose Phosphate Pathway

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      Book Chapter

      Pages 135-142

      Disorders of Fructose Metabolism

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      Book Chapter

      Pages 143-149

      Persistent Hyperinsulinemic Hypoglycemia

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      Book Chapter

      Pages 151-157

      Disorders of Glucose Transport

  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter

      Pages 159-159

    2. No Access

      Book Chapter

      Pages 161-174

      Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

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      Book Chapter

      Pages 175-190

      Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways

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      Book Chapter

      Pages 191-196

      Disorders of Ketogenesis and Ketolysis

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      Book Chapter

      Pages 197-209

      Defects of the Respiratory Chain

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      Book Chapter

      Pages 211-217

      Creatine Deficiency Syndromes

  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter

      Pages 219-220

    2. No Access

      Book Chapter

      Pages 221-232

      Hyperphenylalaninaemia

    3. No Access

      Book Chapter

      Pages 233-243

      Disorders of Tyrosine Metabolism

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      Book Chapter

      Pages 245-262

      Branched-Chain Organic Acidurias/Acidemias

    5. No Access

      Book Chapter

      Pages 263-272

      Disorders of the Urea Cycle and Related Enzymes

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