Table of Contents

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   Book Overview
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   Chapter 1 Clinical Approach to Inborn Errors of Metabolism in Paediatrics
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   Chapter 2 Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations
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   Chapter 3 Newborn Screening for Inborn Errors of Metabolism
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   Chapter 4 Diagnostic Procedures: Functional Tests and Post-mortem Protocol
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   Chapter 5 Emergency Treatments
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   Chapter 6 The Glycogen Storage Diseases and Related Disorders
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   Chapter 7 Disorders of Galactose Metabolism
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   Chapter 8 Disorders of the Pentose Phosphate Pathway
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    Chapter 9 Disorders of Fructose Metabolism
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    Chapter 10 Persistent Hyperinsulinaemic Hypoglycaemia
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    Chapter 11 Disorders of Glucose Transport
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    Chapter 12 Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
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    Chapter 13 Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
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    Chapter 14 Disorders of Ketogenesis and Ketolysis
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    Chapter 15 Defects of the Respiratory Chain
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    Chapter 16 Creatine Deficiency Syndromes
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    Chapter 17 Hyperphenylalaninaemia
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    Chapter 18 Disorders of Tyrosine Metabolism
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    Chapter 19 Branched-chain Organic Acidurias/Acidaemias
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    Chapter 20 Disorders of the Urea Cycle and Related Enzymes
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    Chapter 21 Disorders of Sulfur Amino Acid Metabolism
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    Chapter 22 Disorders of Ornithine Metabolism
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    Chapter 23 Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
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    Chapter 24 Nonketotic Hyperglycinaemia (Glycine Encephalopathy)
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    Chapter 25 Disorders of Proline and Serine Metabolism
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    Chapter 26 Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
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    Chapter 27 Biotin-responsive Disorders
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    Chapter 28 Disorders of Cobalamin and Folate Transport and Metabolism
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    Chapter 29 Disorders of Neurotransmission
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    Chapter 30 Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
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    Chapter 31 Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
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    Chapter 32 Dyslipidaemias
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    Chapter 33 Disorders of Cholesterol Synthesis
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    Chapter 34 Disorders of Bile Acid Synthesis
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    Chapter 35 Disorders of Phospholipid and Glycosphingolipid Synthesis
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    Chapter 36 Disorders of Purine and Pyrimidine Metabolism
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    Chapter 37 Disorders of Haem Biosynthesis
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    Chapter 38 Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
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    Chapter 39 Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses
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    Chapter 40 Mucopolysaccharidoses and Oligosaccharidoses
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    Chapter 41 Peroxisomal Disorders
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    Chapter 42 Congenital Disorders of Glycosylation
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    Chapter 43 Cystinosis