2006

Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

ISBN: 978-3-540-22954-4 (Print) 978-3-540-28962-3 (Online)

Table of contents (38 chapters)

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  1. Initial Approaches

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      Pages 3-13

      Emergency Management of Metabolic Diseases

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      Pages 15-21

      The Role of Communication in the Treatment of Inborn Metabolic Diseases

  2. Approach to Treatment

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      Pages 25-34

      Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

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      Pages 35-42

      Disorders of Neurotransmission

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      Pages 43-48

      Disorders of GABA, Glycine, Serine, and Proline

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      Pages 49-55

      Disorders of Tyrosine Degradation

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      Pages 57-58

      Disorders of Histidine Metabolism

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      Pages 59-79

      Disorders of Leucine Metabolism

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      Pages 81-92

      Disorders of Valine-Isoleucine Metabolism

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      Pages 93-97

      Various Organic Acidurias

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      Pages 99-103

      Disorders of the γ-Glutamyl Cycle

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      Pages 105-115

      Disorders of Sulfur Amino Acid Metabolism

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      Pages 117-127

      Inherited Hyperammonaemias

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      Pages 129-138

      Disorders of Ornithine, Lysine, and Tryptophan

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      Pages 139-145

      Defective Transcellular Transport of Amino Acids

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      Pages 147-160

      Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism

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      Pages 161-180

      Disorders of Carbohydrate and Glycogen Metabolism

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      Pages 181-187

      Disorders of Glucose Transport

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      Pages 189-193

      Disorders of Glycerol Metabolism

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      Book Chapter

      Pages 195-203

      The Mucopolysaccharidoses

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