Translational studies in Zellweger spectrum disorders - Front matter

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Translational studies in Zellweger spectrum disorders

Berendse, K.

Publication date

2016

Document Version

Final published version

Link to publication

Citation for published version (APA):

Berendse, K. (2016). Translational studies in Zellweger spectrum disorders.

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Translational studies in

Zellweger spectrum

disorders

Translational studies in Zellweger spectrum disorders Kevin Berendse

Thesis, University of Amsterdam, Amsterdam ISBN: 978-94-028-0292-4

Cover: Joo Yeon Engelen – Lee

Lay-out: Rianne Wieringa, www.persoonlijkproefschrift.nl Printed by Ipskamp Drukker B.V., www.proefschriften.net Copyright © 2016 Kevin Berendse, The Netherlands

All right reserved. No part of this thesis may be reproduced, stored in a retrieval system or transmitted in any way of by any means without prior permission of the author

Translational studies in

Zellweger spectrum

disorders

ACADEMISCH PROEFSCHRIFT

ter verkrijging van de graad van doctor aan de Universiteit van Amsterdam op gezag van de Rector Magnificus

prof. dr. ir. K.I.J. Maex

ten overstaan van een door het College voor Promoties ingestelde commissie,

in het openbaar te verdedigen in de Agnietenkapel op donderdag 20 oktober 2016, te 14:00 uur

door Kevin Berendse geboren te West Maas en Waal

Promotiecommissie

Promotores: Prof. dr. B.T. Poll-The Universiteit van Amsterdam Prof. dr. R.J.A. Wanders Universiteit van Amsterdam

Copromotores: Dr. M. Engelen Universiteit van Amsterdam Prof. dr. H.R. Waterham Universiteit van Amsterdam

Overige leden: Prof. dr. M. Baes Katholieke Universiteit Leuven Prof. dr. A.K. Groen Universiteit van Amsterdam Prof. dr. H.S. Heymans Universiteit van Amsterdam Dr. S. Kemp Universiteit van Amsterdam Prof. dr. F.A. Wijburg Universiteit van Amsterdam Prof. dr. M. Willemsen Radboud Universiteit Nijmegen

Table of contents

Part I

Introduction

Chapter 1 General introduction

Chapter 2 Zellweger spectrum disorders: clinical overview and management approach Orphanet journal of Rare Diseases (2015) 10:151

Part II

Laboratory studies

Chapter 3 Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

Orphanet Journal of Rare Diseases (2013) 8:138

Chapter 4 The hypomorphic Pex1-G844D mouse model: a model to study hepatic disease in mild Zellweger spectrum disorders

In preparation for submission

Part III

Clinical trials

Chapter 5 Cholic acid therapy in Zellweger spectrum disorders

Accepted for publication in Journal of Inherited Metabolic Disease

Part IV

Extension of the clinical phenotype

Chapter 6 Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

Journal of Inherited Metabolic Disease (2016) 39:93-106

Chapter 7 High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

Orphanet Journal of Rare Diseases (2014) 9:133

Part V

Summary and general discussion

Chapter 8 Summary, general discussion, future research and implications for

clinical practice

Part VI

Nederlandse samenvatting

Chapter 9 Samenvatting in het Nederlands en beschouwing

Appendix

Curriculum Vitae PhD portfolio Acknowledgements / Dankwoord Axels stofwisselingszieke Abbreviations

The work described in this thesis was carried out at the Department of Paediatric Neurology and the laboratory Genetic Metabolic Diseases,

Departments of Clinical Chemistry and Paediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands. The research was funded by a grant of “Stichting Metakids”, “Stichting Steun Emma Kinderziekenhuis” and partly supported by “Hersenstichting”, “Koninklijke Nederlandse Akademie van Wetenschappen” and “Axel Foundation”, The Netherlands.

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