University of Groningen
In silico patient
Wegrzyn, Agnieszka
DOI:
10.33612/diss.126805978
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Publication date:
2020
Link to publication in University of Groningen/UMCG research database
Citation for published version (APA):
Wegrzyn, A. (2020). In silico patient: systems medicine approach to inborn errors of metabolism. University
of Groningen. https://doi.org/10.33612/diss.126805978
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In silico
patient
Systems medicine approach to inborn
errors of metabolism
The research presented in this thesis was carried out at the Department of Pediatrics, Center for Liver and Metabolic Diseases, University of Groningen. The research described in this thesis was funded by the Marie Curie Initial Training Networks (ITN) action PerFuMe [project number 316723] and University Medical Center Groningen. The research group participates in the Groningen Institute for Drug Exploration (GUIDE).
Financial support for printing of this thesis was received from: the University Library
the Graduate School of Medical Sciences
the Groningen Institute for Drug Exploration (GUIDE) Cover & Layout: A.B. Wegrzyn
Printed by Proefschriftmaken | Proefschriftmaken.nl ISBN: 978-94-034-2671-6 (Printed version) ISBN: 978-94-034-2670-9 (Digital version) © Copyright 2020, A.B. Węgrzyn
All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, without permission of the author.
In silico patient
Systems medicine approach to inborn errors of metabolism
PhD thesis
to obtain the degree of PhD at the University of Groningen
on the authority of the Rector Magnificus Prof. C. Wijmenga
and in accordance with the decision by the College of Deans. This thesis will be defended in public on
Monday 15 June 2020 at 11.00 hours
by
Agnieszka Barbara Węgrzyn
born on 21 July 1988 in Tuchów, Poland
Supervisors
Prof. B.M. Bakker
Prof. V. Martins Dos Santos
Assessment Committee
Prof. I.J. van der Klei Prof. H.R. Waterham Prof. H.V. Westerhoff
Table of contents
&KDSWHU General introduction and outline of the thesis 7
&KDSWHU Cofactors revisited – predicting the impact of flavoprotein-related
diseases on a genome scale 29 &KDSWHU Fibroblast-specific genome-scale modelling predicts an imbalance in
amino acid metabolism in Refsum disease 69 &KDSWHU Phenylketonuria: modelling cerebral amino acid and neurotransmitter
metabolism 107
&KDSWHU General discussion 159
Appendices I. Summary
II. Samenvatting III. Streszczenie IV. Acknowledgements V. Biography
VI. List of publications VII. Authors’ affiliations VIII. Portfolio IX. Abbreviations 174 178 182 186 191 192 193 194 195 7 31 69 107 159 173 178 182 186 191 192 193 194 195
