Baumgartner, Matthias R.

Inborn Metabolic Diseases

Baumgartner, Matthias R. - Inborn Metabolic Diseases, ebook


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Table of contents

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

Keywords: Medicine & Public Health, Pediatrics, Human Genetics, Endocrinology, Neurology

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689 pages
Medicine, Health Care, Mode
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