Saudubray, Jean-Marie
Inborn Metabolic Diseases
I. Diagnosis and Treatment: General Principles
1. Clinical Approach to Inborn Errors of Metabolism in Paediatrics
Jean-Marie Saudubray
2. Inborn Errors of Metabolism in Adults: A Diagnostic Approach to Neurological and Psychiatric Presentations
Frédéric Sedel
3. Newborn Screening for Inborn Errors of Metabolism
Bridget Wilcken, Piero Rinaldo, Dietrich Matern
4. Diagnostic Procedures: Functional Tests and Post-mortem Protocol
Guy Touati, Fanny Mochel, Daniel Rabier
5. Emergency Treatments
Carlo Dionisi-Vici, Hélène Ogier de Baulny
II. Disorders of Carbohydrate Metabolism
6. The Glycogen Storage Diseases and Related Disorders
Pascal Laforêt, David A. Weinstein, G. Peter A. Smit
7. Disorders of Galactose Metabolism
Gerard T. Berry, John H. Walter
8. Disorders of the Pentose Phosphate Pathway
Mirjam M. C. Wamelink, Vassili Valayannopoulos, Cornelis Jakobs
9. Disorders of Fructose Metabolism
Beat Steinmann, René Santer
10. Persistent Hyperinsulinaemic Hypoglycaemia
Pascale de 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. De Meirleir, Michèle Brivet, Angels Garcia-Cazorla
13. Disorders of Mitochondrial Fatty Acid Oxidation and Related Metabolic Pathways
Andrew A. M. Morris, Ute Spiekerkoetter
14. Disorders of Ketogenesis and Ketolysis
Andrew A.M. Morris
15. Defects of the Respiratory Chain
Arnold Munnich, Agnès Rötig, Marlène Rio
16. Creatine Deficiency Syndromes
Sylvia Stöckler-Ipsiroglu, Saadet Mercimek-Mahmutoglu, Gajja S. Salomons
IV. Disorders of Amino Acid Metabolism and Transport
17. Hyperphenylalaninaemia
John H. Walter, Robin H. Lachmann, Peter Burgard
18. Disorders of Tyrosine Metabolism
Anupam Chakrapani, Paul Gissen, Patrick McKiernan
19. Branched-chain Organic Acidurias/Acidaemias
Hélène Ogier de Baulny, Carlo Dionisi-Vici, Udo Wendel
20. Disorders of the Urea Cycle and Related Enzymes
Frits A. Wijburg, Marie-Cécile Nassogne
21. Disorders of Sulfur Amino Acid Metabolism
Generoso Andria, Brian Fowler, Gianfranco Sebastio
22. Disorders of Ornithine Metabolism
Matthias R. Baumgartner, David Valle
23. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Georg F. Hoffmann, Stefan Kölker
24. Nonketotic Hyperglycinaemia (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, Harri Niinikoski, 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 Watkins, David S. Rosenblatt, Brian Fowler
VI. Neurotransmitter and Small Peptide Disorders
29. Disorders of Neurotransmission
Àngels García-Cazorla, K. Michael Gibson, Peter T. Clayton
30. Disorders in the Metabolism of Glutathione and Imidazole Dipeptides
Ertan Mayatepek, Jaak Jaeken
31. Trimethylaminuria and Dimethylglycine Dehydrogenase Deficiency
Valerie Walker, Ron A. Wevers
VII. Disorders of Lipid and Bile Acid Metabolism
32. Dyslipidaemias
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
35. Disorders of Phospholipid and Glycosphingolipid Synthesis
Foudil Lamari, Frédéric Sedel, Jean-Marie Saudubray
VIII. Disorders of Nucleic Acid and Heme Metabolism
36. Disorders of Purine and Pyrimidine Metabolism
Georges Berghe, M.-Françoise Vincent, Sandrine Marie
37. Disorders of Haem Biosynthesis
Charles Marquez Lourenço, Chul Lee, Karl E. Anderson
IX. Disorders of Metal Transport
38. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
Marc Bierings, Peter T. Clayton, Roderick H.J. Houwen
X. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
39. Disorders of Sphingolipid Metabolism and Neuronal Ceroid-Lipofuscinoses
Marie T. Vanier, Catherine Caillaud
40. Mucopolysaccharidoses and Oligosaccharidoses
J. Ed Wraith
41. Peroxisomal Disorders
Bwee Tien Poll-The, Patrick Aubourg, Ronald J.A. Wanders
42. Congenital Disorders of Glycosylation
Jaak Jaeken
43. Cystinosis
Michel Broyer, Patrick Niaudet
Keywords: Medicine & Public Health, Pediatrics, Human Genetics, Endocrinology, Neurology
- Author(s)
- Saudubray, Jean-Marie
- Berghe, Georges
- Walter, John H.
- Publisher
- Springer
- Publication year
- 2012
- Language
- en
- Edition
- 1
- Page amount
- 683 pages
- Category
- Medicine, Health Care, Mode
- Format
- Ebook
- eISBN (PDF)
- 9783642157202