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Blau, Nenad

Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

Physician’s Guide to the Treatment and Follow-Up of Metabolic Diseases

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ISBN: 9783540289623
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Table of contents

1. Emergency Management of Metabolic Diseases
Georg F. Hoffmann, Joe T.R. Clarke, James V. Leonard

2. The Role of Communication in the Treatment of Inborn Metabolic Diseases
Peter Burgard, Udo Wendel

3. Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism
Nenad Blau, Peter Burgard

4. Disorders of Neurotransmission
Georg F. Hoffmann, Robert Surtees

5. Disorders of GABA, Glycine, Serine, and Proline
Jaak Jaeken, Tom J. Koning

6. Disorders of Tyrosine Degradation
Elisabeth Holme

7. Disorders of Histidine Metabolism
Nenad Blau

8. Disorders of Leucine Metabolism
Rebecca S. Wappner, K. Michael Gibson

9. Disorders of Valine-Isoleucine Metabolism
Bruce A. Barshop

10. Various Organic Acidurias
Alberto Burlina, John Walter

11. Disorders of the ?-Glutamyl Cycle
Ellinor Ristoff, Agne Larsson

12. Disorders of Sulfur Amino Acid Metabolism
Bridget Wilcken

13. Inherited Hyperammonaemias
James V. Leonard

14. Disorders of Ornithine, Lysine, and Tryptophan
Georg F. Hoffmann, Andreas Schulze

15. Defective Transcellular Transport of Amino Acids
Susanne Schweitzer-Krantz

16. Disorders of Mitochondrial Fatty Acid Oxidation and Ketone Body Metabolism
Hélène Ogier Baulny, Andrea Superti-Furga

17. Disorders of Carbohydrate and Glycogen Metabolism
Jan Peter Rake, Gepke Visser, G. Peter A. Smit

18. Disorders of Glucose Transport
René Santer, Jörg Klepper

19. Disorders of Glycerol Metabolism
Katrina M. Dipple, Edward R.B. McCabe

20. The Mucopolysaccharidoses
J. Edward Wraith, Joe T.R. Clarke

21. Oligosaccharidoses and Related Disorders
Generoso Andria, Giancarlo Parenti

22. Congenital Disorders of Glycosylation
Jaak Jaeken

23. Cystinosis
Erik Harms

24. Other Storage Disorders
Joe T.R. Clarke

25. Inborn Errors of Purine and Pyrimidine Metabolism
Albert H. Gennip, Jörgen Bierau, William L. Nyhan

26. Disorders of Creatine Metabolism
Sylvia Stöckler-Ipsiroglu, Roberta Battini, Ton DeGrauw, Andreas Schulze

27. Peroxisomal Disorders
Hanna Mandel

28. Hyperoxaluria
Bernd Hoppe, Ernst Leumann

29. Mitochondrial Energy Metabolism
Carolien Boelen, Jan Smeitink

30. Genetic Dyslipoproteinemias
Serena Tonstad, Brian McCrindle

31. Disorders of Steroid Synthesis and Metabolism
Anna Biason-Lauber

32. Inborn Errors of Cholesterol Biosynthesis
Dorothea Haas, Richard I. Kelley

33. The Porphyrias
Elisabeth Minder, Xiaoye Schneider-Yin

34. Disorders of Bile Acid Synthesis
Peter T. Clayton

35. Disorders of Copper, Zinc, and Iron Metabolism
Eve A. Roberts

36. Leukotrienes
Ertan Mayatepek

37. Hyperinsulinism of Infancy
Khalid Hussain

38. Other Metabolic Disorders
Georg F. Hoffmann, Nenad Blau

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Keywords: MEDICAL / Public Health MED078000

Author(s)
 
 
 
Publisher
Springer
Publication year
2006
Language
en
Edition
1
Category
Medicine, Health Care, Mode
Format
Ebook
eISBN (PDF)
9783540289623

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