دانلود کتاب بیماری های متابولیک مادرزادی: تشخیص و درمان Inborn Metabolic Diseases: Diagnosis and Treatment 7th Edition
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توضیحات کتاب:
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.
Within the last 5 years a Copernican revolution in our understanding of IMD has changed the definition, concepts, paradigms, and classification. This new edition now extends the concept of IMD to include those disturbances in molecular machinery diagnosed by molecular techniques but currently without measurable metabolic markers.
The book presents a clinical and biochemical approach to the diagnosis and management of IEM with many diagnostic algorithms for patients of all ages and with a particular focus on neurological presentations. It includes separate, comprehensive sections on IEM classified in 3 major pathophysiological categories: disorders of energy metabolism, both mitochondrial and non-mitochondrial; small molecule disorders, mostly diagnosed with metabolic markers; and complex molecules disorders, mostly diagnosed with molecular techniques.
Two new chapters were added, describing around 600 disorders of nucleic acid metabolism, tRNA metabolism, ribosomal biogenesis, and cellular trafficking.
Contents: فهرست فصول
I. Diagnosis and Treatment: General Principles
1. Clinical Approach to Inborn Errors of Metabolism in Paediatrics
2. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations
3. Diagnostic Procedures
4. Emergency Treatments
II. Disorders of Energy Metabolism
5. The Glycogen Storage Diseases and Related Disorders
6. Congenital Hyperinsulinism and Genetic Disorders of Insulin Resistance and Signalling
7. Disorders of Glycolysis and the Pentose Phosphate Pathway
8. Disorders of Glucose and Monocarboxylate Transporters
9. Disorders of Creatine Metabolism
10. Disorders of Oxidative Phosphorylation
11. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
12. Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism
13. Disorders of Ketogenesis and Ketolysis
III. Small Molecule Disorders
14. Disorders of Galactose Metabolism
15. Disorders of Fructose Metabolism
16. Hyperphenylalaninaemia
17. Disorders of Tyrosine Metabolism
18. Branched-Chain Organic Acidurias/Acidaemias
19. Disorders of the Urea Cycle and Related Enzymes
20. Disorders of Sulfur Amino Acid Metabolism
21. Disorders of Ornithine and Proline Metabolism
22. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
23. Nonketotic Hyperglycinaemia and Lipoate Deficiency Disorders
24. Disorders of Glutamine, Serine and Asparagine Metabolism
25. Disorders of Amino Acid Transport at the Cell Membrane
26. Cystinosis
27. Biotin-Responsive Disorders
28. Disorders of Cobalamin and Folate Transport and Metabolism
29. Disorders of Thiamine and Pyridoxine Metabolism
30. Disorders of Neurotransmission
31. Disorders of Peptide and Amine Metabolism
32. Disorders of Purine and Pyrimidine Metabolism
33. Disorders of Haem Biosynthesis
34. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
IV. Complex Molecule Disorders and Cellular Trafficking Disorders
35. Disorders of Intracellular Triglyceride and Phospholipid Metabolism
36. Inborn Errors of Lipoprotein Metabolism Presenting in Childhood
37. Disorders of Isoprenoid/Cholesterol Synthesis
38. Disorders of Bile Acid Synthesis
39. Disorders of Nucleic Acid Metabolism, tRNA Metabolism and Ribosomal Biogenesis
40. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
41. Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders
42. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
43. Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
44. Disorders of Cellular Trafficking
V. Appendices
45. Medications Used in the Treatment of Inborn Errors of Metabolism
Index
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