Baumgartner, Matthias R.
Inborn Metabolic Diseases
Section I. Diagnosis and Treatment: General Principles
1. Clinical Approach to Inborn Errors of Metabolism in Pediatrics
Jean-Marie Saudubray, Angela Garcia Cazorla
2. Inborn Errors of Metabolism in Adults : A Diagnostic Approach to Neurological and Psychiatric Presentations
Fanny Mochel, Frédéric Sedel
3. Diagnostic Procedures
Guy Touati, Fanny Mochel, Daniel Rabier
4. Emergency Treatments
Manuel Schiff, Fanny Mochel, Carlo Dionisi-Vici
Section II. Disorders of Carbohydrate Metabolism
5. The Glycogen Storage Diseases and Related Disorders
John Walter, Philippe Labrune, Pascal Laforêt
6. Disorders of Galactose Metabolism
Gerard T. Berry, John Walter, Judith L. Fridovich-Keil
7. Disorders of Glycolysis and the Pentose Phosphate Pathway
Mirjam M.C. Wamelink, Vassili Valayannopoulos, Barbara Garavaglia
8. Disorders of Fructose Metabolism
Beat Steinmann, René Santer
9. Congenital Hyperinsulinism
Jean-Baptiste Arnoux, Pascale Lonlay
10. Disorders of Glucose Transport
René Santer, Jörg Klepper
Section III. Disorders of Mitochondrial Energy Metabolism
11. Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle
Linda J. Meirleir, Angels Garcia-Cazorla, Michele Brivet
12. Disorders of Mitochondrial Fatty Acid Oxidation & Riboflavin Metabolism
Andrew A.M. Morris, Ute Spiekerkoetter
13. Disorders of Ketogenesis and Ketolysis
Andrew A.M. Morris
14. Disorders of Oxidative Phosphorylation
Shamima Rahman, Johannes A. Mayr
15. Creatine Deficiency Syndromes
Sylvia Stöckler-Ipsiroglu, Saadet Mercimek-Mahmutoglu, Gajja S. Salomons
Section IV. Disorders of Amino Acid Metabolism and Transport
16. Hyperphenylalaninaemia
Peter Burgard, Robin H. Lachmann, John Walter
17. Disorders of Tyrosine Metabolism
Anupam Chakrapani, Paul Gissen, Patrick McKiernan
18. Branched-chain Organic Acidurias /Acidaemias
Manuel Schiff, Hélène Ogier Baulny, Carlo Dionisi-Vici
19. Disorders of the Urea Cycle and Related Enzymes
Johannes Häberle, Vicente Rubio
20. Disorders of Sulfur Amino Acid Metabolism
Viktor Kožich, Andrew A.M. Morris, Henk J Blom
21. Disorders of Ornithine and Proline Metabolism
Matthias R. Baumgartner, David Valle, Carlo Dionisi-Vici
22. Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism
Georg F. Hoffmann, Stefan Kölker
23. Nonketotic Hyperglycinemia (Glycine Encephalopathy ) and Lipoate Deficiency Disorders
Johan L.K. Hove, Julia B. Hennermann, Curtis R. Coughlin II
24. Disorders of Glutamine , Serine and Asparagine Metabolism
Jaak Jaeken, Johannes Häberle, Olivier Dulac
25. Disorders of Amino Acid Transport at the Cell Membrane
Kirsti Näntö-Salonen, Manuel Schiff, Harri Niinikoski
Section V. Vitamin-Responsive Disorders
26. Biotin-responsive Disorders
Matthias R. Baumgartner, Terttu Suormala
27. Disorders of Cobalamin and Folate Transport and Metabolism
David Watkins, David S. Rosenblatt, Brian Fowler
28. Disorders of Thiamine and Pyridoxine Metabolism
Garry Brown, Barbara Plecko
Section VI. Neurotransmitter and Small Peptide Disorders
29. Disorders of Neurotransmission
Àngels García-Cazorla, Rafael Artuch, K. Michael Gibson
30. Trimethylaminuria, Dimethylglycine Dehydrogenase Deficiency and Disorders in the Metabolism of Glutathione
Valerie Walker, Ron A Wevers, Ertan Mayatepek
Section VII. Disorders of Lipid and Bile Acid Metabolism
31. Inborn Errors of Lipoprotein Metabolism Presenting in Childhood
Uma Ramaswami, Steve E Humphries
32. Disorders of Isoprenoid/ Cholesterol Synthesis
Hans R. Waterham, Peter T. Clayton
33. Disorders of Bile Acid Synthesis
Peter T. Clayton
34. Disorders of Intracellular Triglyceride and Phospholipid Metabolism
Foudil Lamari, Jean-Marie Saudubray, Grant A. Mitchell
Section VIII. Disorders of Nucleic Acid and Heme Metabolism
35. Disorders of Purine and Pyrimidine Metabolism
Sandrine Marie, Georges Berghe, Marie-Françoise Vincent
36. Disorders of Haem Biosynthesis
Charles Marques Lourenço, Karl E. Anderson
Section IX. Disorders of Metal Transport and Metabolism
37. Disorders in the Transport of Copper, Iron, Magnesium, Manganese, Selenium and Zinc
Peter M. Hasselt, Peter T. Clayton, Roderick H.J. Houwen
Section X. Organelle-Related Disorders: Lysosomes, Peroxisomes, and Golgi and Pre-Golgi Systems
38. Disorders of Sphingolipid Synthesis, Sphingolipidoses, Niemann-Pick Disease Type C and Neuronal Ceroid Lipofuscinoses
Marie T. Vanier, Catherine Caillaud, Thierry Levade
39. Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders
Simon Jones, Frits Wijburg
40. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
Ronald J.A. Wanders, Patrick Aubourg, Bwee Tien Poll-Thé
41. Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
Jaak Jaeken, Eva Morava
42. Cystinosis
Patrick Niaudet
Section XI. Appendix
43. Medications Used in the Treatment of Inborn Errors
John Walter
Avainsanat: Medicine & Public Health, Pediatrics, Human Genetics, Endocrinology, Neurology
- Toimittaja
- Baumgartner, Matthias R.
- Saudubray, Jean-Marie
- Walter, John
- Julkaisija
- Springer
- Julkaisuvuosi
- 2016
- Kieli
- en
- Painos
- 1
- Sivumäärä
- 689 sivua
- Kategoria
- Terveys, kauneus, muoti
- Tiedostomuoto
- E-kirja
- eISBN (PDF)
- 9783662497715
- Painetun ISBN
- 978-3-662-49769-2