Functions and dysfunctions of peroxisomal fatty acid ß-oxidation in man

Thesis

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Titlepage

List of Abbreviations

Contents

Chapter 1 General Introduction

Chapter 2 Genetic heterogeneity in patients with a disorder of peroxisomal -oxidation: A complementation study based on pristanic acid -oxidation suggesting different enzyme defects

Chapter 3 Complementation analysis of fibroblasts from peroxisomal fatty acid oxidation deficient patients show high frequency of bifunctional protein deficiency plus intragenic complementation: Unequivocal evidence for differential defects in the same enzyme protein

Chapter 4 Bifunctional protein deficiency: Complementation within the same group suggesting differential enzyme defects and clues to the underlying basis

Chapter 5 Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

Chapter 6 Peroxisomal Bifunctional Protein Deficiency Revisited: Resolution of its True Enzymatic and Molecular Basis

Chapter 7 Enoyl-CoA hydratase deficiency: Identification of a new type of D-Bifunctional protein deficiency

Summary/Samenvatting

DANKWOORD

Publications

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