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Marlies J. Valstar
Observed names:
M. J. Valstar,
M.J. Valstar,
Marlies J Valstar,
Marlies Valstar,
Valstar, Marlies J
Institution:
Erasmus MC
Observed institutions:
Erasmus MC,
Amsterdam UMC Location University of Amsterdam,
Emma Kinderziekenhuis,
Erasmus MC - Sophia Children’s Hospital,
University of Amsterdam,
Erasmus University Rotterdam
show all 6
ORCID:
0000-0002-2398-9945
Observed ORCID:
0000-0002-2398-9945
OpenAlex ID:
A5073593697
Sanfilippo syndrome: A mini‐review
2008
·
M. J. Valstar
, G. J. G. Ruijter
, et al.
·
Journal of Inherited Metabolic Disease
·
396
Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype‐phenotype correlations
2010
·
Marlies J. Valstar
, Sanne Neijs
, et al.
·
Annals of Neurology
·
194
Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands
2007
·
G.J.G. Ruijter
, M.J. Valstar
, et al.
·
Molecular Genetics and Metabolism
·
153
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
2010
·
Marlies J. Valstar
, Hennie T. Bruggenwirth
, et al.
·
Journal of Inherited Metabolic Disease
·
124
Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome)
2011
·
Marlies J Valstar
, Jan Pieter Marchal
, et al.
·
Orphanet Journal of Rare Diseases
·
114
PDF
Genistein in Sanfilippo disease: A randomized controlled crossover trial
2011
·
Jessica de Ruijter
, Marlies J. Valstar
, et al.
·
Annals of Neurology
·
113
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome
2022
·
Jessica Duis
, Mark Nespeca
, et al.
·
Molecular Genetics & Genomic Medicine
·
69
PDF
Predicting health‐related quality of life of parents of children with inherited metabolic diseases
2009
·
Janneke Hatzmann
, Marlies J Valstar
, et al.
·
Acta Paediatrica
·
60
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations
2010
·
Marlies J. Valstar
, Aida M. Bertoli-Avella
, et al.
·
Human Mutation
·
45
PDF
Mucopolysaccharidosis Type III (Sanfilippo Syndrome): Emerging Treatment Strategies
2011
·
J. de Ruijter
, M. J. Valstar
, et al.
·
Current Pharmaceutical Biotechnology
·
40
Clinical aspects of a large group of adults with Angelman syndrome
2020
·
Inge den Besten
, Rianne F. de Jong
, et al.
·
American Journal of Medical Genetics Part A
·
29
PDF
Light up: an intervention study of the effect of environmental dynamic lighting on sleep–wake rhythm, mood and behaviour in older adults with intellectual disabilities
2022
·
M. N. Böhmer
, A. Oppewal
, et al.
·
Journal of Intellectual Disability Research
·
19
PDF
Shedding light on light exposure in elderly with intellectual disabilities
2021
·
M. N. Böhmer
, M. J. Valstar
, et al.
·
Journal of Intellectual Disability Research
·
19
PDF
Residual N‐acetyl‐α‐glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
2016
·
O. L. M. Meijer
, L. Welling
, et al.
·
Journal of Inherited Metabolic Disease
·
18
PDF
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome
2020
·
Amber Geerts‐Haages
, Stijn N. V. Bossuyt
, et al.
·
Molecular Genetics & Genomic Medicine
·
13
PDF
Genistein in Sanfilippo Disease: A Randomized Controlled Cross-over Trial
2012
·
Jessica de Ruijter
, Marlies Valstar
, et al.
·
Molecular Genetics and Metabolism
·
2
Langdurige neonatale icterus met later ataxie,verticale blikparese en progressieve mentale achteruitgang: de ziekte van Niemann-Pick type C
2010
·
M.J. Valstar
, T. Dahhan
, et al.
·
Tijdschrift voor kindergeneeskunde
·
2
Sanfilippo syndrome: mucopolysaccharidosis type III
2010
·
Marlies J. Valstar
·
UvA-DARE (University of Amsterdam)
·
1
Clinical variability in individuals with ATR-X syndrome in the Netherlands
2025
·
Anne Noordhuis-Zijderveld
, Dederieke A.M. Festen
, et al.
·
European Journal of Medical Genetics
Niet-epileptische myoclonieën bij volwassenen met het Angelman syndroom
2022
·
Marlies Valstar
, Rianne De Jong
, et al.
·
Epilepsie periodiek voor professionals
PDF
Langdurige neonatale icterus met later ataxie, verticale blikparese en progressieve mentale achteruitgang: de ziekte van Niemann-Pick type C
2011
·
M.J. Valstar
, T. Dahhan
, et al.
·
Tijdschrift voor kindergeneeskunde
Sanfillippo syndrome. Mucopolysaccharidosis type III
2010
·
Marlies J. Valstar
·
Data Archiving and Networked Services (DANS)
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Works count:
25
Citation count:
1,411
H-index:
14
I10-index:
15
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