Saudubray, Jean-Marie

Inborn Metabolic Diseases

Saudubray, Jean-Marie - Inborn Metabolic Diseases, ebook


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Table of contents

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

Publication year
Page amount
683 pages
Medicine, Health Care, Mode

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