Berghe, Georges

Inborn Metabolic Diseases

Berghe, Georges - Inborn Metabolic Diseases, ebook


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ISBN: 9783540287858
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Table of contents

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


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Keywords: MEDICAL / Public Health MED078000

Publication year
Medicine, Health Care, Mode

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