Molecular, biochemical end clinical aspects of peroxisomes biogenesis disorders

Thesis

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Titlepage

Contents

Abbreviations

Chapter 1 General Introduction

Chapter 2 Biochemical markers predicting survival in peroxisome biogenesis disorders

Chapter 3 Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder

Chapter 4 Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder

Chapter 5 Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40ºC: implications for other inborn errors of metabolism

Chapter 6 Reinvestigation of trihydroxycholestanoic acidemia: a peroxisome biogenesis disorder as true defect

Chapter 7 Rapid diagnosis of peroxisomal biogenesis disorders by means of immunofluorescence microscopy in lymphocytes

Chapter 8 Mutational spectrum of peroxisome biogenesis disorders

Summary

Samenvatting

Dankwoord

Curriculum vitae

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