Inborn Metabolic Diseases

Table of Contents

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