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Table of contents

  1. Abstract
  2. Introduction
  3. Chronic Encephalopathy
  4. Acute Encephalopathy
  5. Ataxia and Extrapyramidal Movement Disorders
  6. Myopathy
  7. Psychiatric problems
  8. Biochemical investigations
  9. Glucose
  10. Blood Gases and Acid-base Profile
  11. Lactate
  12. Ketones
  13. Ammonium
  14. Amino acids
  15. Organic acids
  16. Mucopolysaccharides
  17. Oligosaccharides
  18. Acylcarnitine and acylglycines
  19. Very-long-chain fatty acids (VLCFA)
  20. Red Cell Plasmalogens
  21. Pipecolic acid
  22. Enzyme studies
  23. Tandem mass spectrometry
  24. Molecular genetic studies
  25. Neuroimaging
  26. Treatment of inherited neurometabolic disorders
  27. Conclusion
  28. References
  29. Figures
  30. Tables

References
- An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist


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