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Peter M. van Hasselt
Peter M. van Hasselt
Associate Professor, Wilhelmina Kinderziekenhuis, UMC Utrecht
Geverifieerd e-mailadres voor umcutrecht.nl
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Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
2272012
Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability
GR Monroe, GW Frederix, S Savelberg, TI De Vries, KJ Duran, ...
Genetics in Medicine 18 (9), 949-956, 2016
1902016
Loss of syntaxin 3 causes variant microvillus inclusion disease
CL Wiegerinck, AR Janecke, K Schneeberger, GF Vogel, ...
Gastroenterology 147 (1), 65-68. e10, 2014
1792014
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines
M Aldenhoven, SA Jones, D Bonney, RE Borrill, M Coussons, J Mercer, ...
Biology of Blood and Marrow Transplantation 21 (6), 1106-1109, 2015
1612015
Prime editing for functional repair in patient-derived disease models
IF Schene, IP Joore, R Oka, M Mokry, AHM van Vugt, R van Boxtel, ...
Nature communications 11 (1), 5352, 2020
1602020
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass‐spectrometry
HCMT Prinsen, BGM Schiebergen‐Bronkhorst, MW Roeleveld, JJM Jans, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016
1582016
Prevention of vitamin K deficiency bleeding in breastfed infants: lessons from the Dutch and Danish biliary atresia registries
PM Van Hasselt, TJ De Koning, N Kvist, E De Vries, CR Lundin, R Berger, ...
Pediatrics 121 (4), e857-e863, 2008
1362008
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum
A Kuechler, MH Willemsen, B Albrecht, CA Bacino, DW Bartholomew, ...
Human genetics 134, 97-109, 2015
1242015
Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation
J Lübbehusen, C Thiel, N Rind, D Ungar, BH Prinsen, TJ de Koning, ...
Human molecular genetics 19 (18), 3623-3633, 2010
1112010
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone
F Bendadi, TJ De Koning, G Visser, HCMT Prinsen, MGM De Sain, ...
The Journal of Pediatrics 164 (2), 398-401, 2014
1002014
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications
HA Haijes, JJM Jans, SY Tas, NM Verhoeven‐Duif, PM van Hasselt
Journal of Inherited Metabolic Disease 42 (5), 730-744, 2019
972019
Monocarboxylate transporter 1 deficiency and ketone utilization
PM van Hasselt, S Ferdinandusse, GR Monroe, JPN Ruiter, M Turkenburg, ...
New England Journal of Medicine 371 (20), 1900-1907, 2014
972014
Metabolic profiles in children during fasting
MR Van Veen, PM Van Hasselt, MGM de Sain-van der Velden, ...
Pediatrics 127 (4), e1021-e1027, 2011
962011
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder
N Lipstein, NM Verhoeven-Duif, FE Michelassi, N Calloway, ...
The Journal of clinical investigation 127 (3), 1005-1018, 2017
952017
Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations
MC De Vries, RJ Rodenburg, E Morava, EPM Van Kaauwen, H Ter Laak, ...
European journal of pediatrics 166, 229-234, 2007
952007
Aminoacyl-tRNA synthetase deficiencies in search of common themes
SA Fuchs, IF Schene, G Kok, JM Jansen, PGJ Nikkels, KLI van Gassen, ...
Genetics in Medicine 21 (2), 319-330, 2019
892019
Altered immune function in human newborns after prenatal administration of betamethasone: enhanced natural killer cell activity and decreased T cell proliferation in cord blood
A Kavelaars, G Van Der Pompe, JM Bakker, PM Van Hasselt, B Cats, ...
Pediatric research 45 (3), 306-312, 1999
881999
Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
SN Van Der Crabben, MP Hennus, GA McGregor, DI Ritter, ...
The Journal of clinical investigation 126 (8), 2881-2892, 2016
852016
Mutations in MDH2, encoding a Krebs cycle enzyme, cause early-onset severe encephalopathy
S Ait-El-Mkadem, M Dayem-Quere, M Gusic, A Chaussenot, S Bannwarth, ...
The American Journal of Human Genetics 100 (1), 151-159, 2017
822017
Expanding the spectrum of BAF-related disorders: de novo variants in SMARCC2 cause a syndrome with intellectual disability and developmental delay
K Machol, J Rousseau, S Ehresmann, T Garcia, TTM Nguyen, ...
The American Journal of Human Genetics 104 (1), 164-178, 2019
702019
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