Laboratory Guide to the Methods in Biochemical Genetics

1. Laboratory Strategies in Biochemical Genetics
R.J. Pollitt

2. Quality Control and Quality Assurance in the Biochemical Genetic Laboratory
Jim R. Bonham

3. Simple Metabolic Screening Tests
K. Michael Gibson, Marinus Duran

4. Lactate, Pyruvate, Acetoacetate and 3-Hydroxybutyrate
Anne J. Vassault

5. Amino Acids
Marinus Duran

6. Homocysteine, S-adenosylmethionine and S-adenosylhomocysteine
Brian Fowler

7. GABA, Homocarnosine, and ß-Alanine
Erwin E.W. Jansen, Cornelis Jakobs, K. Michael Gibson

8. Pipecolic Acid
Marinus Duran

9. Organic Acids
Piero Rinaldo

10. Acylcarnitines, Including In Vitro Loading Tests
Dietrich Matern

11. Plasmalogens and Polyunsaturated Fatty Acids
Marinus Duran, Ronald J.A. Wanders

12. Very-Long-Chain Fatty Acids and Phytanic Acid
Ronald J.A. Wanders, Marinus Duran

13. Oxalate, Glycolate, Glycerate, Sulfate, and Citrate
Nenad Blau

14. Glycerol and Glycerol Phosphates
Katrina M. Dipple, Edward R.B. McCabe

15. Biotinidase
Terttu Suormala, Matthias Baumgartner, Brian Fowler

16. Mitochondrial Respiratory Chain
Pierre Rustin

17. Mucopolysaccharides
Zoltan Lukacs

18. Oligosaccharides
Adrian C. Sewell

19. Sialic Acid
Frans W. Verheijen

20. Glycosphingolipids
Ben J.H.M. Poorthuis, Johannes M.F.G. Aerts

21. Congenital Disorders of Glycosylation
Christian Körner, Jürgen Lübbehusen, Christian Thiel

22. Enzymes and Metabolites of Carbohydrate Metabolism
Nils Bosshard, Beat Steinmann

23. Polyols
Nanda Verhoeven-Duif, Mirjam M.C. Wamelink, Cornelis Jakobs

24. Diagnosis of Inherited Defects of Cholesterol Biosynthesis
Hans Waterham, Marinus Duran

25. Lipoproteins
Martin Hersberger, Lucia Rohrer, Arnold Eckardstein

26. Genetic Disorders of Steroid Metabolism Diagnosed by Mass Spectrometry
Cedric Shackleton

27. Bile Acids
Giorgio Federici

28. Pterins and Related Enzymes
Nenad Blau, Beat Thöny

29. Biogenic Amines
Simon J.R. Heales

30. Folates
Nenad Blau, Thomas Opladen

31. Screening for Disorders of Purine and Pyrimidine Metabolism Using HPLC-Electrospray Tandem Mass Spectrometry
André B.P. Kuilenburg, Arno Cruchten, Nico G.G.M. Abeling

32. Creatine and its Metabolites
Eduard A. Struys, Nanda Verhoeven-Duif, Cornelis Jakobs

33. Porphyrins, Porphobilinogen, and d-Aminolevulinic Acid
Elisabeth I. Minder, Xiaoye Schneider-Yin

34. Trimethylaminuria
Ron A. Wevers, Udo F.H. Engelke

35. A Tandem Mass Spectrometry Primer for Metabolite Disease Detection
Donald H. Chace

36. Molecular Genetics: Mutation Analysis in the Diagnosis of Metabolic Disorders
Johannes Zschocke, Bart Janssen

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Keywords: MEDICAL / Public Health MED078000