UvA-DARE (Digital Academic Repository) Phenylketonuria: optimizing care Demirdas, S. Link to publication Citation for published version (APA): Demirdas, S. (2015). Phenylketonuria: optimizing care General rights It is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulations If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. UvA-DARE is a service provided by the library of the University of Amsterdam (http://dare.uva.nl) Download date: 07 Sep 2017
PHENYLKETONURIA: OPTIMIZING CARE Serwet Demirdas
Phenylketonuria: optimizing care Thesis, University of Amsterdam, Amsterdam, The Netherlands S. Demirdas, M.D. All rights reserved. No part of this publication may be reproduced, stored or transmitted in any form or by any means, without prior permission of the author. Cover : Eva Bakker, Niet iedereen kent Eva, Amsterdam, The Netherlands Layout : Lukman Özer, Amsterdam, The Netherlands Printed by : Gildeprint Drukkerijen, Enschede, The Netherlands ISBN/EAN : 978-94-6108-995-3 About the cover: The cover represents the accumulation of the phenylalanine molecule in the brain of patients with phenylketonuria. The printing of this thesis was financially supported by: Nutricia Research BV, Vitaflo International Ltd, The University of Amsterdam, Actelion Pharmaceuticals Nederland B.V. and Genzyme BeNeLux
PHENYLKETONURIA: OPTIMIZING CARE ACADEMISCH PROEFSCHRIFT ter verkrijging van de graad van doctor aan de Universiteit van Amsterdam op gezag van Rector Magnificus prof. dr. D.C. van den Boom ten overstaan van een door het College voor Promoties ingestelde commissie, in het openbaar te verdedigen in de Agnietenkapel op vrijdag 11 september 2015, te 14:00 uur door Servet Demirdas geboren te Tunceli, Turkije
PROMOTIECOMMISSIE Promotor: Prof. Dr. F.A. Wijburg Universiteit van Amsterdam Copromotor: Dr. A.M. Bosch Universiteit van Amsterdam Overige leden: Prof. Dr. P. Burgard University of Heidelberg Prof. Dr. M.A. Grootenhuis Prof. Dr. H.S.A. Heymans Prof. Dr. B.T. Poll-The Prof. Dr. F.J. van Spronsen Prof. Dr. R.J.A. Wanders Universiteit van Amsterdam Universiteit van Amsterdam Universiteit van Amsterdam Rijksuniversiteit Groningen Universiteit van Amsterdam Faculteit: Faculteit der Geneeskunde
This thesis is dedicated to my parents: You have thought me to always be the best of who I am.
THESIS CONTENT Chapter 1 General introduction 8 Chapter 2 Chapter 3 Chapter 4 Clinical pathways for inborn errors of metabolism: warranted and feasible Orphanet J Rare Dis 2013, 8: 37 Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study Mol Genet Metab 2013, 110 Suppl: S49-S56. The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands Mol Genet Metab 2013, 109: 237-242 34 42 72 Chapter 5 Chapter 6 Bone health in phenylketonuria: a systematic review and meta-analysis Orphanet J Rare Dis 2015, 10: 17 Micronutrients, fatty acids and bone health in phenylketonuria Submitted 90 140 Chapter 7 Discussion and summary 170 Chapter 8 Future perspectives 188 Chapter 9 Dutch summary 194 Addendum List of publications Co-authors and affiliations List of abbreviations Portfolio Acknowledgements About the author 208