Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Part 1. GENERAL SUBJECTS AND PROFILES.- 1. Newborn Screening for Inborn Errors of Metabolism.- 2. Simple Tests and Routine Chemistry.- 3. Amino Acids.- 4. Organic Acids.- 5 .Acylcarnitines.- 6. Lysosomals.- 7. Untargeted Metabolomics - Next Generation Metabolic Screening.- 8. MRI and In Vivo Spectroscopy of the Brain.- 9. Genomic Approaches for the Diagnosis of Inborn Errors of Metabolism.- 10. Other-omics Approaches and Their Integration for the Diagnosis and Treatment of Inborn Errors of Metabolism.- 11. Emergency Diagnostic Procedures and Emergency Treatment.- 12. Nosology of Inborn Errors of Metabolism.- Part 2. DISORDERS OF NITROGEN-CONTAINING COMPOUNDS.- 13. Purine and Pyrimidine Disorders.- 14. Disorders of nucleotide metabolism.- 15. Disorders of Creatine Metabolism.- 16. Disorder of Glutathione Metabolism.- 17. Disorders of Ammonia Detoxification.- 18. Amino Acid Transport Defects.- 19. Disorders of Monoamine Metabolism.- 20. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism.- 21. Disorders of Tyrosine Metabolism.- 22. Disorders of Sulfur Amino Acid and Hydrogen Sulfide Metabolism.- 23. Disorders of Branched-Chain Amino Acid Metabolism.- 24. Disorders of Beta and Gamma Amino Acids.- 25. Amino Acid Synthesis Deficiencies.- 26. Disorders of Glycine Metabolism.- 27. Disorders of Lipoic Acid and Iron-Sulfur Protein Metabolism.- Part 3. DISORDERS OF VITAMINS, COFACTORS, METALS AND MINERALS.- 28. Disorders of Cobalamin Metabolism.- 29. Disorders of Folate Metabolism and Transport.- 30. Disorders of Biotin Metabolism.- 31. Thiamine Disorders.- 32. Disorders of Riboflavin Metabolism.- 33. Disorders of Niacin, NAD and Panthotenate Metabolism.- 34. Vitamin B6-Dependent and Responsive Disorders.- 35. Molybdenum Cofactor Disorders.- 36. Disorders of Copper, Zinc and Selenium Metabolism.- 37. Disorders of Iron Metabolism.- 38. Disorders of Manganese Metabolism.- Part 4. DISORDERS OF CARBOHYDRATES.- 39. Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism.- 40. Disorders of the Pentose Phosphate Pathway and Polyol Metabolism.- 41. Hyperinsulinism.- Part 5. MITOCHONDRIAL DISORDERS OF ENERGY METABOLISM.- 42. Disorders of the Pyruvate Metabolism and the Krebs Cycle.- 43. Disorders of Mitochondrial Carriers.- 44. Isolated Mitochondrial Complex Deficiencies.- 45. Disorders of Replication, Transcription and Translation of Mitochondrial DNA.- 46. Disorders of mitochondrial homeostasis, dynamics, protein import and quality control.- 47. Primary Coenzyme Q10 Deficiencies.- Part 6. DISORDERS OF LIPIDS.- 48. Mitochondrial Fatty Acid Oxidation Disorders.- 49. Disorders of Glycerol Metabolism.- 50. Disorders of Ketone Body Metabolism and Transport.- 51. Disorders of Complex Lipids.- 52. Disorders of Eicosanoid Metabolism.- 53. Disorders of Lipoprotein Metabolism.- 54. Disorders of Cholesterol Biosynthesis.- 55. Disorders of Adrenals and Gonads.- 56. Disorders of Bile Acid Synthesis. Part 7. DISORDERS OF TETRAPYRROLES.- 57. Disorders of Heme Metabolism.- 58. Inherited Disorders of Bilirubin Metabolism.- Part 8. STORAGE DISORDERS.- 59. Disorders of Autophagy.- 60. Lipidoses: The Sphingolipidoses, Lysosomal Acid Lipase Deficiency and Niemann Pick type C.- 61. The Neuronal Ceroid Lipofuscinoses.-62. Mucolipidoses, Multiple Sulfatase deficiency, Cathepsin K and C Deficiency.- 63. Oligosaccharidoses and Sialic Acid Disorders.- 64. The Mucopolysaccharidoses.- 65. Cystinosis.- Part 9. DISORDERS OF PEROXISOMES AND OXALATE.- 66. Peroxisomal Disorders.- 67. Disorders for Oxalate Metabolism.- Part 10. CONGENITAL DISORDERS OF GLYCOSYLATION.- 68. Congenital Disorders of Glycosylation.- Part 11. VARIOUS.- 69. Cerebral Organic Acidurias.- 70. 3-Methylglutaconic acidurias.- 71. Biochemical Phenotypes of Questionable Clinical Significance.- 72. Knowledgebase of Inborn Errors of Metabolism (IEMbase): A Practical Approach.- 73. WikiPathways: Integrating Pathway Knowledge with Clinical Data.

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• Genética médica
• Medicina pediátrica
• Metabolismo
• Bioquímica
• Técnicas e ensaios do laboratório médico

Inborn errors of metabolism;Biochemical genetics;Metabolomics;Orphan drugs;Nutrition