Inborn Metabolic Diseases Diagnosis and Treatment

Inborn Metabolic Diseases Diagnosis and Treatment / edited by John Fernandes, Jean-Marie Saudubray, Georges van den Berghe.

The diagnosis and treatment of metabolic diseases represent the main issues of this clinical book. Each disease-related chapter starts with a figure which presents an outline of the metabolic pathway, the locations of its inborn defects, and a short explanation of its major functions. The position o...

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Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Fernandes, John (Editor), Saudubray, Jean-Marie (Editor), Berghe, Georges van den (Editor)
Format: eBook
Language:English
Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2000.
Edition:3rd ed. 2000.
Series:Springer eBook Collection.
Subjects:
Pediatrics.
Neurology .
Endocrinology .
Human genetics.
Electronic resources (E-books)
Online Access:Click to view e-book
Holy Cross Note:Loaded electronically.
Electronic access restricted to members of the Holy Cross Community.
Table of Contents:
  • 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.

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