Five years have passed since the second edition of With respect to the contents of the book, most chapters have been rewritten or extensively revised. A Inborn Metabolic Diseases; Diagnosis and Treatment was published. The third edition, now being presented, few chapters from the second edition have been deleted, since their contents are discussed in other has been thoroughly updated and revised. Again, the clinical presentation, the methods to arrive at the chapters of the present edition. A few new chapters diagnosis and the treatment of the patient have have been introduced, such as a general chapter on remained the focus of the book, that for a large part treatment, which gives a comprehensive list of present has been written by clinicians for clinicians. The scope treatments and new trends, a chapter on persistent of the readership has enlarged: from the original teams hyperinsulinemic hypoglycemia, a combined chapter of pediatricians, biochemists and dieticians it now also on disorders of ketogenesis and ketolysis, a chapter on disorders of proline and serine metabolism, a chapter encompasses neurologists, internists, geneticists and psychosocial workers. This reflects the fact that for on disorders of cholesterol synthesis, and a chapter on many inborn metabolic diseases the survival of the defective leukotriene synthesis. For more detailed patients and their quality of life have improved.
Rezensionen / Stimmen
"[This title] is a pleasure to read...Written by clinicians for clinicians... It covers briefly but comprehensively disorders of carbohydrate, amino acid, and mitochondrial energy metabolism, as well as disorders of neurotransmitters, lipids, nucleic acid and heme metabolism, and metal transport and disorders related to organelles... this is an invaluable book for anyone seeking a short, practical, authoritative work on inborn errors of metabolism, and the authors are to be congratulated." (NEW ENGLAND JOURNAL OF MEDICINE)
Auflage
Sprache
Verlagsort
Verlagsgruppe
Illustrationen
57
57 s/w Abbildungen
XII, 467 p. 57 illus.
ISBN-13
978-3-662-04285-4 (9783662042854)
DOI
10.1007/978-3-662-04285-4
Schweitzer Klassifikation
I Diagnosis and Treatment: General Principles.- 1. Clinical Approach to Inherited Metabolic Diseases.- 2. Diagnostic Procedures: Function Tests and Postmortem Protocol.- 3. Emergency Treatments.- 4. Psychosocial Care of the Child and Family.- 5. Treatment: Present Status and New Trends.- Il Disorders of Carbohydrate Metabolism.- 6. The Glycogen-Storage Diseases.- 7. Disorders of Galactose Metabolism.- 8. Disorders of Fructose Metabolism.- 9. Persistent Hyperinsulinemic Hypoglycemia.- Ill Disorders of Mitochondrial Energy Metabolism.- 10. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle.- 11. Disorders of Fatty Acid Oxidation.- 12. Disorders of Ketogenesis and Ketolysis.- 13. Defects of the Respiratory Chain.- IV Disorders of Amino Acid Metabolism and Transport.- 14. The Hyperphenylalaninaemias.- 15. Disorders of Tyrosine Metabolism.- 16. Branched-Chain Organic Acidurias.- 17. Disorders of the Urea Cycle.- 18. Disorders of Sulfur Amino Acid Metabolism.- 19. Disorders of Ornithine and Creatine Metabolism.- 20. Disorders of Lysine Catabolism and Related Cerebral Organic-Acid Disorders.- 21. Nonketotic Hyperglycinemia.- 22. Disorders of Proline and Serine Metabolism.- 23. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Hartnup Disease, and Lysinuric Protein Intolerance.- V Vitamin-Responsive Disorders.- 24. Biotin-Responsive Multiple Carboxylase Deficiency.- 25. Disorders of Cobalamin and Folate Transport and Metabolism.- VI Neurotransmitter and Small Peptide Disorders.- 26. Disorders of Neurotransmission.- 27. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides.- VII Disorders of Lipid and Bile Acid Metabolism.- 28. Dyslipidemias.- 29. Disorders of Cholesterol Synthesis.- 30. Disorders of Bile-Acid Synthesis.- VIII Disorders of Nucleic Acid and Heme Metabolism.- 31. Disorders of Purine and Pyrimidine Metabolism.- 32. The Porphyrias.- IX Disorders of Metal Transport.- 33. Copper Transport Disorders: Wilson Disease and Menkes Disease.- 34. Genetic Defects Related to Metals Other Than Copper.- X Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems.- 35. Disorders of Sphingolipid Metabolism.- 36. Mucopolysaccharidoses and Oligosaccharidoses.- 37. Peroxisomal Disorders.- 38. Congenital Defects of Glycosylation: Disorders of N-Glycan Synthesis.- 39. Cystinosis.- 40. Primary Hyperoxalurias.- 41. Leukotriene-C4-Synthesis Deficiency.
