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Isovaleric acidemia: an integrated approach toward predictive laboratory
medicine
Dercksen, M.
Publication date
2014
Link to publication
Citation for published version (APA):
Dercksen, M. (2014). Isovaleric acidemia: an integrated approach toward predictive laboratory
medicine.
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Table of contents
Abbreviations i
Chapter 1 Introduction 1
Chapter 2 Clinical variability of isovaleric acidemia in a genetically homogeneous population
Journal of inherited metabolic disease (2012) 35: 1021-1029
45
Chapter 3 Concurrent class analysis identifies discriminatory variables from metabolomics data on isovaleric acidemia
Metabolomics (2012) 8: 17-28
63
Chapter 4 Organic acid profile of isovaleric acidemia: a comprehensive metabolomics approach
Metabolomics (2013) 9: 765-777
89
Chapter 5 Inhibition of N-acetylglutamate synthase by various
monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters
Accepted by BBA - Molecular Basis of Disease (2013) 10.1016/j.bbadis.2013.04.027
115
Chapter 6 A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
In preparation for submission
135
Chapter 7 Polyunsaturated fatty acid and vitamin B12 status in treated isovaleric acidemia patients
Submitted for publication
147
Chapter 8 General discussion and future prospects 165
Summary/Samenvatting 187
