2014

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

ISBN: 978-3-642-40336-1 (Print) 978-3-642-40337-8 (Online)

Table of contents (55 chapters)

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  1. Front Matter

    Pages i-xlv

  2. Amino Acids

    1. Front Matter

      Pages 1-1

    2. No Access

      Book Chapter

      Pages 3-21

      Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism

    3. No Access

      Book Chapter

      Pages 23-31

      Tyrosine Metabolism

    4. No Access

      Book Chapter

      Pages 33-46

      Sulphur Amino Acids

    5. No Access

      Book Chapter

      Pages 47-62

      Hyperammonemias and Related Disorders

    6. No Access

      Book Chapter

      Pages 63-83

      Disorders of Glycine, Serine, GABA, and Proline Metabolism

    7. No Access

      Book Chapter

      Pages 85-99

      Amino Acid Transport Defects

  3. Organic Acids

    1. Front Matter

      Pages 101-101

    2. No Access

      Book Chapter

      Pages 103-141

      Disorders of Leucine, Isoleucine, and Valine Metabolism

    3. No Access

      Book Chapter

      Pages 143-156

      Cerebral Organic Acidurias

    4. No Access

      Book Chapter

      Pages 157-163

      Ethylmalonic Encephalopathy

  4. Vitamins, Cofactors, and Metals

    1. Front Matter

      Pages 165-165

    2. No Access

      Book Chapter

      Pages 167-178

      Disorders of Folate Metabolism and Transport

    3. No Access

      Book Chapter

      Pages 179-190

      Vitamin B6-Dependent and Responsive Disorders

    4. No Access

      Book Chapter

      Pages 191-203

      Molybdenum Cofactor Disorders

    5. No Access

      Book Chapter

      Pages 205-218

      Vitamin B12 Disorders

    6. No Access

      Book Chapter

      Pages 219-225

      Biotin Disorders

    7. No Access

      Book Chapter

      Pages 227-232

      Thiamine Disorders

    8. No Access

      Book Chapter

      Pages 233-244

      Riboflavin and CoQ Disorders

  5. Energy Metabolism

    1. Front Matter

      Pages 245-245

    2. No Access

      Book Chapter

      Pages 247-264

      Mitochondrial Fatty Acid Oxidation Disorders

    3. No Access

      Book Chapter

      Pages 265-301

      Disorders of Carbohydrate Metabolism and Glucose Transport

    4. No Access

      Book Chapter

      Pages 303-311

      Pyruvate Carboxylase and Pyruvate Dehydrogenase Deficiency

    5. No Access

      Book Chapter

      Pages 313-322

      Disorders of the Krebs Cycle

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