LIMITED OFFER
Save 50% on book bundles
Immediately download your ebook while waiting for your print delivery. No promo code needed.
Accurate interpretation of the organic acid chromatographs obtained from the gas chromatography/mass spectrometry requires a significant amount of practice. Pattern recognition is… Read more
LIMITED OFFER
Immediately download your ebook while waiting for your print delivery. No promo code needed.
Section 1 Introduction1. Introduction
Section 2 Organic acidurias2. Disorder: Glutaric acidemia type 13. Disorder: Glutaric acidemia type 24. Disorder: 2-Hydroxyglutaric aciduria5. Disorder: Isovaleric aciduria6. Disorder: 2-Methylbutyrylglycinuria7. Disorder: 3-Methylcrotonyl-CoA-carboxylase deficiency8. Disorder: 3-Methyglutaconic aciduria9. Disorder: Methylmalonic aciduria10. Disorder: Propionic acidemia11. Disorder: Succinic semialdehyde dehydrogenase deficiency
Section 3 Urea cycle defects12. Disorder: Arginase deficiency13. Disorder: Argininosuccinic acidemia14. Disorder: Carbamyl phosphate synthetase 1 deficiency and N-acetylglutamate synthase deficiency15. Disorder: Citrullinemia and citrin deficiency16. Disorder: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome17. Disorder: Ornithine transcarbamylase deficiency
Section 4 Disorders of amino acid metabolism18. Disorder: β-Ketothiolase deficiency19. Disorder: Lysinuric protein intolerance20. Disorder: Maple syrup urine disease21. Disorder: Glycine encephalopathy22. Disorder: Phenylketonuria23. Disorder: Tyrosinemia type 124. Disorder: Tyrosinemia types 2 and 3
Section 5 Fatty acid oxidation defects25. Disorder: Carnitine-acylcarnitine translocase deficiency26. Disorder: Carnitine palmitoyltransferase 1 deficiency27. Disorder: Carnitine palmitoyltransferase 2 deficiency28. Disorder: Carnitine transporter deficiency29. Disorder: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency30. Disorder: Medium-chain acyl-CoA dehydrogenase deficiency31. Disorder: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency32. Disorder: Very long chain acyl CoA dehydrogenase deficiency
Section 6 Other metabolic disorders33. Disorder: Biotin: Biotinidase deficiency and holocarboxylase synthetase deficiency34. Disorder: Canavan Disease35. Disorder: Dihydropyrimidine dehydrogenase deficiency36. Disorder: Glutathione synthetase deficiency37. Disorder: Pyruvate dehydrogenase deficiency
PJ
KP
DR