Levinus Adrianus Bok
Levinus Adrianus Bok
Unknown affiliation
Verified email at mmc.nl
Title
Cited by
Cited by
Year
The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection
LS De Vries, H Gunardi, PG Barth, LA Bok, MA Verboon-Maciolek, ...
Neuropediatrics 35 (02), 113-119, 2004
1752004
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials
CDM van Karnebeek, H Hartmann, S Jaggumantri, LA Bok, B Cheng, ...
Molecular genetics and metabolism 107 (3), 335-344, 2012
852012
Long‐term outcome in pyridoxine‐dependent epilepsy
LA Bok, FJ Halbertsma, S Houterman, RA Wevers, C Vreeswijk, C Jakobs, ...
Developmental Medicine & Child Neurology 54 (9), 849-854, 2012
832012
An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)
GS Salomons, LA Bok, EA Struys, LL Pope, PS Darmin, PB Mills, ...
Annals of neurology 62 (4), 414-418, 2007
662007
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
TS Koemans, T Kleefstra, MC Chubak, MH Stone, MRF Reijnders, ...
PLoS genetics 13 (10), e1006864, 2017
622017
Epidemiology of pyridoxine dependent seizures in the Netherlands
JV Been, LA Bok, P Andriessen, WO Renier
Archives of disease in childhood 90 (12), 1293-1296, 2005
612005
Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels
LA Bok, E Struys, MAAP Willemsen, JV Been, C Jakobs
Archives of disease in childhood 92 (8), 687-689, 2007
512007
Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
M Klaassens, D Morrogh, EM Rosser, F Jaffer, M Vreeburg, LA Bok, ...
European Journal of Human Genetics 23 (5), 610-615, 2015
502015
Lysine-restricted diet as adjunct therapy for pyridoxine-dependent epilepsy: the PDE consortium consensus recommendations
CDM van Karnebeek, S Stockler-Ipsiroglu, S Jaggumantri, B Assmann, ...
JIMD Reports, Volume 15, 47-57, 2014
452014
The EEG response to pyridoxine‐IV neither identifies nor excludes pyridoxine‐dependent epilepsy
LA Bok, NM Maurits, MA Willemsen, C Jakobs, LK Teune, BT Poll‐The, ...
Epilepsia 51 (12), 2406-2411, 2010
392010
Antenatal treatment in two Dutch families with pyridoxine-dependent seizures
LA Bok, JV Been, EA Struys, C Jakobs, EAM Rijper, MA Willemsen
European journal of pediatrics 169 (3), 297-303, 2010
342010
The measurement of urinary Δ1‐piperideine‐6‐carboxylate, the alter ego of α‐aminoadipic semialdehyde, in Antiquitin deficiency
EA Struys, LA Bok, D Emal, S Houterman, MA Willemsen, C Jakobs
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2012
302012
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
MRF Reijnders, R Janowski, M Alvi, JE Self, TJ Van Essen, M Vreeburg, ...
Journal of medical genetics 55 (2), 104-113, 2018
252018
Missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila
J Straub, EDH Konrad, J Grüner, A Toutain, LA Bok, MT Cho, ...
The American Journal of Human Genetics 102 (1), 44-57, 2018
242018
The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies
D Mathis, L Abela, M Albersen, C Bürer, L Crowther, K Beese, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016
182016
Callosal alterations in pyridoxine‐dependent epilepsy
SD Friedman, GE Ishak, SL Poliachik, AV Poliakov, RK Otto, DWW Shaw, ...
Developmental Medicine & Child Neurology 56 (11), 1106-1110, 2014
182014
Brain imaging can predict neurodevelopmental outcome of Group B streptococcal meningitis in neonates
JMS Martis, LA Bok, FJJ Halbertsma, HLM van Straaten, LS de Vries, ...
Acta Paediatrica 108 (5), 855-864, 2019
62019
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
RLP De Rooy, FJ Halbertsma, EA Struijs, FJ van Spronsen, RJ Lunsing, ...
European Journal of Paediatric Neurology 22 (4), 662-666, 2018
62018
Prevalence of systemic air-embolism after prolonged cardiopulmonary resuscitation in newborns: a pilot study
FJJ Halbertsma, T Mohns, LA Bok, HJ Niemarkt, BW Kramer
Resuscitation 93, 96-101, 2015
62015
Development of children with symptomatic intracranial hemorrhage born after vacuum extraction
MJC Schot, FJJ Halbertsma, T Katgert, LA Bok
Journal of child neurology 28 (4), 520-523, 2013
62013
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