University of Groningen
Movement disorders in inborn errors of metabolism
Kuiper, Anouk
DOI:
10.33612/diss.128407009
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Publication date: 2020
Link to publication in University of Groningen/UMCG research database
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Kuiper, A. (2020). Movement disorders in inborn errors of metabolism: Characterisation of motor and non-motor symptoms. University of Groningen. https://doi.org/10.33612/diss.128407009
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Movement disorders in inborn
errors of metabolism
Characterisation of motor and non-motor symptoms
Cover: Shutterstock.com
Design and layout: Legatron Electronic Publishing, Rotterdam Printing: Ipskamp Printing, Enschede
July 2020
Copyright 2020 © Anouk Kuiper
ISBN: 978-94-034-2659-4 (printed version) ISBN: 978-94-034-2658-7 (e-book)
This research was financially supported by Stichting Metakids, Stichting Stofwisselkracht, ZonMW and COST-European cooperation in science and technology.
Conference attendances were financially supported by the Research School of Behavioral and Cognitive Neurosciences (BCN).
Publication of this thesis was financially supported by: University of Groningen, University Medical Center Groningen and SBOH.
No part of this thesis may be reproduced, stored in a retrieval system or transmitted in any form or by any means without permission from the author or, when appropriate, from the publishers of the publications.
Movement disorders in inborn
errors of metabolism
Characterisation of motor and non-motor symptoms
Proefschrift
ter verkrijging van de graad van doctor aan de
Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. C. Wijmenga
en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op
dinsdag 7 juli 2020 om 11.00 uur
door
Anouk Kuiper
geboren op 28 september 1988
te Utrecht
Movement disorders in inborn
errors of metabolism
Characterisation of motor and non-motor symptoms
Proefschrift
ter verkrijging van de graad van doctor aan de
Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. C. Wijmenga
en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op
dinsdag 7 juli 2020 om 11.00 uur
door
Anouk Kuiper
geboren op 28 september 1988
te Utrecht
Promotores
Prof. dr. T.J. de KoningProf. dr. M.A.J. de Koning-Tijssen
Beoordelingscommissie
Prof. dr. B.H.R. Wolffenbuttel Prof. dr. T. van LaarProf. dr. A.T. van der Ploeg
Paranimfen
Dr. H. (Wieke) Eggink Dr. J.M. (Jeannette) GelauffTable of contents
Chapter 1 ‒ Introduction: Movement disorders caused by inborn errors of metabolism 9
Partly based on: Revue Revue Neurologique. 2016 Aug ‒ Sep;172(8-9):455-464
Chapter 2 ‒ Dystonia in children and adolescents: a systematic review and a new 33
diagnostic algorithm
Journal of Neurology, Neurosurgery and Psychiatry. 2015 Jul;86(7):774-81
Chapter 3 ‒ Rare inborn errors of metabolism with movement disorders: 63
a case study to evaluate the impact upon quality of life and adaptive functioning
Orphanet Journal of Rare Disorders. 2014 Nov 26;9:177
Chapter 4 ‒ Movement disorders and non-motor neuropsychological symptoms in 79
children and adults with classical galactosemia
Journal of Inherited Metabolic Disease. 2019 May;42(3):451-458
Chapter 5 ‒ Movement disorders, behavioural problems and daily functioning in patients 95
with organic acidurias
Manuscript submitted for publication
Chapter 6 ‒ Ataxia, dystonia and myoclonus in adult patients with Niemann Pick type C 115
Orphanet Journal of Rare Disorders. 2016 Sep 1;11(1):121
Chapter 7 ‒ Non-motor symptoms and quality of life in dopa-responsive dystonia patients 131
Parkinsonism and related Disorders. 2017 Dec;45:57-62
Chapter 8 ‒ Summary and general discussion 149
Nederlandse samenvatting 165
List of Abbreviations 175
Dankwoord 179
Curriculum Vitae 185
