Mitochondrial trifunctional protein in disease and development

Thesis

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Stellingen

Titlepage

Table of Contents

List of Abbreviations

1 Introduction

2 Aim of the thesis

3 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients

4 Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurological involvement

5 Heterozygosity for the common LCHAD mutation (1528G>C) is not a major cause of the HELLP syndrome and the prevalence of the mutation in the Dutch population is low

6 Long-chain triglyceride loading test in female LCHAD heterozygotes

7 High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal disease

8 Long-chain fatty acid oxidation during early human development

9 Summary and discussion

10 Samenvatting en discussie

Dankwoord

Curriculum Vitae

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