Berghe, Georges
Inborn Metabolic Diseases
I.Diagnosis and Treatment: General Principles
1. A Clinical Approach to Inherited Metabolic Diseases
Jean-Marie Saudubray, Isabelle Desguerre, Frédéric Sedel, Christiane Charpentier
2. Newborn Screening for Inborn Errors of Metabolism
Bridget Wilcken
3. Diagnostic Procedures: Function Tests and Postmortem Protocol
Guy Touati, Jan Huber, Jean-Marie Saudubray
4. Emergency Treatments
Viola Prietsch, Hélène Ogier de Baulny, Jean-Marie Saudubray
5. Treatment: Present Status and New Trends
John H. Walter, J. Ed Wraith
II.Disorders of Carbohydrate Metabolism
6. The Glycogen Storage Diseases and Related Disorders
G. Peter A. Smit, Jan Peter Rake, Hasan O. Akman, Salvatore DiMauro
7. Disorders of Galactose Metabolism
Gerard T. Berry, Stanton Segal, Richard Gitzelmann
8. Disorders of the Pentose Phosphate Pathway
Nanda M. Verhoeven, Cornelis Jakobs
9. Disorders of Fructose Metabolism
Beat Steinmann, René Santer, Georges Berghe
10. Persistent Hyperinsulinemic Hypoglycemia
Pascale Lonlay, Jean-Marie Saudubray
11. Disorders of Glucose Transport
René Santer, Jörg Klepper
III.Disorders of Mitochondrial Energy Metabolism
12. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Linda J. Meirleir, Rudy Coster, Willy Lissens
13. Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
Charles A. Stanley, Michael J. Bennett, Ertan Mayatepek
14. Disorders of Ketogenesis and Ketolysis
Andrew A. M. Morris
15. Defects of the Respiratory Chain
Arnold Munnich
16. Creatine Deficiency Syndromes
Sylvia Stöckler-Ipsiroglu, Gajja S. Salomons
IV.Disorders of Amino Acid Metabolism and Transport
17. Hyperphenylalaninaemia
John H. Walter, Philip J. Lee, Peter Burgard
18. Disorders of Tyrosine Metabolism
Anupam Chakrapani, Elisabeth Holme
19. Branched-Chain Organic Acidurias/Acidemias
Udo Wendel, Hélène Ogier de Baulny
20. Disorders of the Urea Cycle and Related Enzymes
James V. Leonard
21. Disorders of Sulfur Amino Acid Metabolism
Generoso Andria, Brian Fowler, Gianfranco Sebastio
22. Disorders of Ornithine Metabolism
Vivian E. Shih, Matthias R. Baumgartner
23. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Georg F. Hoffmann
24. Nonketotic Hyperglycinemia (Glycine Encephalopathy)
Olivier Dulac, Marie-Odile Rolland
25. Disorders of Proline and Serine Metabolism
Jaak Jaeken
26. Transport Defects of Amino Acids at the Cell Membrane: Cystinuria, Lysinuric Protein Intolerance and Hartnup Disorder
Kirsti Näntö-Salonen, Olli G. Simell
V.Vitamin-Responsive Disorders
27. Biotin-Responsive Disorders
Matthias R. Baumgartner, Terttu Suormala
28. Disorders of Cobalamin and Folate Transport and Metabolism
David S. Rosenblatt, Brian Fowler
VI.Neurotransmitter and Small Peptide Disorders
29. Disorders of Neurotransmission
Jaak Jaeken, Cornelis Jakobs, Peter T. Clayton, Ron A. Wevers
30. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
Ellinor Ristoff, Agne Larsson, Jaak Jaeken
31. Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
Valerie Walker, Ron A. Wevers
VII.Disorders of Lipid and Bile Acid Metabolism
32. Dyslipidemias
Annabelle Rodriguez-Oquendo, Peter O. Kwiterovich
33. Disorders of Cholesterol Synthesis
Hans R. Waterham, Peter T. Clayton
34. Disorders of Bile Acid Synthesis
Peter T. Clayton
VIII.Disorders of Nucleic Acid and Heme Metabolism
35. Disorders of Purine and Pyrimidine Metabolism
Georges Berghe, M.-Françoise Vincent, Sandrine Marie
36. Disorders of Heme Biosynthesis
Norman G. Egger, Chul Lee, Karl E. Anderson
IX.Disorders of Metal Transport
37. Disorders in the Transport of Copper, Zinc and Magnesium
Roderick H. J. Houwen
X.Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
38. Disorders of Sphingolipid Metabolism
Marie-Thérèse Vanier
39. Mucopolysaccharidoses and Oligosaccharidoses
J. Ed Wraith
40. Peroxisomal Disorders
Bwee Tien Poll-The, Patrick Aubourg, Ronald J. A. Wanders
41. Congenital Disorders of Glycosylation
Jaak Jaeken
42. Cystinosis
Michel Broyer
43. Primary Hyperoxalurias
Pierre Cochat, Marie-Odile Rolland
DRM-restrictions
Printing: not available
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Avainsanat: MEDICAL / Public Health MED078000
- Tekijä(t)
- Berghe, Georges
- Fernandes, John
- Saudubray, Jean-Marie
- Walter, John H.
- Julkaisija
- Springer
- Julkaisuvuosi
- 2006
- Kieli
- en
- Painos
- 1
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9783540287858