2012

Inborn Metabolic Diseases

Diagnosis and Treatment

ISBN: 978-3-642-15719-6 (Print) 978-3-642-15720-2 (Online)

Table of contents (43 chapters)

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  1. Front Matter

    Pages I-XXVII

  2. Diagnosis and Treatment: General Principles

    1. Front Matter

      Pages 1-1

    2. No Access

      Book Chapter

      Pages 3-54

      Clinical Approach to Inborn Errors of Metabolism in Paediatrics

    3. No Access

      Book Chapter

      Pages 55-74

      Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations

    4. No Access

      Book Chapter

      Pages 75-86

      Newborn Screening for Inborn Errors of Metabolism

    5. No Access

      Book Chapter

      Pages 87-102

      Diagnostic Procedures: Functional Tests and Post-mortem Protocol

    6. No Access

      Book Chapter

      Pages 103-111

      Emergency Treatments

  3. Disorders of Carbohydrate Metabolism

    1. Front Matter

      Pages 113-113

    2. No Access

      Book Chapter

      Pages 115-139

      The Glycogen Storage Diseases and Related Disorders

    3. No Access

      Book Chapter

      Pages 141-150

      Disorders of Galactose Metabolism

    4. No Access

      Book Chapter

      Pages 151-155

      Disorders of the Pentose Phosphate Pathway

    5. No Access

      Book Chapter

      Pages 157-165

      Disorders of Fructose Metabolism

    6. No Access

      Book Chapter

      Pages 167-174

      Persistent Hyperinsulinaemic Hypoglycaemia

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      Book Chapter

      Pages 175-183

      Disorders of Glucose Transport

  4. Disorders of Mitochondrial Energy Metabolism

    1. Front Matter

      Pages 185-185

    2. No Access

      Book Chapter

      Pages 187-200

      Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

    3. No Access

      Book Chapter

      Pages 201-216

      Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways

    4. No Access

      Book Chapter

      Pages 217-222

      Disorders of Ketogenesis and Ketolysis

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      Book Chapter

      Pages 223-238

      Defects of the Respiratory Chain

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      Book Chapter

      Pages 239-247

      Creatine Deficiency Syndromes

  5. Disorders of Amino Acid Metabolism and Transport

    1. Front Matter

      Pages 249-249

    2. No Access

      Book Chapter

      Pages 251-264

      Hyperphenylalaninaemia

    3. No Access

      Book Chapter

      Pages 265-276

      Disorders of Tyrosine Metabolism

    4. No Access

      Book Chapter

      Pages 277-296

      Branched-chain Organic Acidurias/Acidaemias

    5. No Access

      Book Chapter

      Pages 297-310

      Disorders of the Urea Cycle and Related Enzymes

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