| Description |
1 online resource |
| Contents |
Cover -- Half Title -- Title Page -- Copyright Page -- Contents -- Preface by William L. Nyhan -- Preface by Georg F. Hoffmann -- Contributors -- Part 1: Organic acidemias -- 1. Introduction to the organic acidemias -- 2. Propionic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 3. Methylmalonic acidemia -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 4. Cobalamin C, D, F, G diseases -- methylmalonic aciduria and variable homocystinuria -- Introduction -- Clinical abnormalities |
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Genetics and pathogenesis -- Treatment -- References -- 5. The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 6. Multiple carboxylase deficiency/holocarboxylase synthetase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 7. Multiple carboxylase deficiency/biotinidase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 8. Isovaleric acidemia |
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Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 9. Glutaric aciduria (type I) -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 10. 3-MethylcrotonylCoA carboxylase deficiency/3-methylcrotonylglycinuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 11. D-2-hydroxyglutaric (DL-2-hydroxyglutaric) aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 12. L-2-hydroxyglutaric aciduria |
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Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 13. 4-Hydroxybutyric aciduria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- Part 2: Disorders of amino acid metabolism -- 14. Alkaptonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- References -- 15. Phenylketonuria -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- Maternal PKU -- References |
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16. Hyperphenylalaninemia and defective metabolism of tetrahydrobiopterin -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Diagnosis -- Treatment -- References -- 17. Biogenic amines -- Aromatic L-amino acid decarboxylase deficiency -- Introduction -- Clinical abnormalities -- Psychiatric disorders in carriers -- Genetics and pathogenesis -- Treatment -- Tyrosine hydroxylase deficiency -- Introduction -- Clinical abnormalities -- Genetics and pathogenesis -- Treatment -- Dopamine transporter deficiency syndrome -- Introduction -- Clinical abnormalities |
| Subject |
Metabolism -- Disorders -- Atlases
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Metabolism, Inborn errors of -- Atlases
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Metabolic disorders in children -- Atlases
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Metabolic disorders in children
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Metabolism -- Disorders
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Metabolism, Inborn errors of
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| Genre/Form |
Scientific atlases
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| Form |
Electronic book
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| ISBN |
9781138196629 |
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1138196622 |
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