Levinus A Bok Selected Research

Pyridoxine-dependent epilepsy

1/2022	Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
1/2021	Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
1/2021	Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
1/2014	Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
11/2012	Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
8/2011	Roth spots in pyridoxine dependent epilepsy.
12/2010	The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy.
10/2007	An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).
8/2007	Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

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Levinus A Bok Research Topics

Disease

9	Pyridoxine-dependent epilepsy 01/2022 - 08/2007
5	Seizures (Absence Seizure) 09/2012 - 10/2007
4	Brain Diseases (Brain Disorder) 01/2021 - 10/2007
3	Epilepsy (Aura) 01/2021 - 01/2014
2	Intellectual Disability (Idiocy) 01/2021 - 10/2017
1	Down Syndrome (Down's Syndrome) 09/2022
1	Genomic Instability 01/2022
1	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022
1	Amblyopia (Lazy Eye) 01/2022
1	Astigmatism 01/2022
1	Developmental Disabilities (Developmental Disability) 01/2022
1	DiGeorge Syndrome (Syndrome, DiGeorge) 01/2022
1	Hyperopia (Hypermetropia) 01/2022
1	Strabismus (Squint) 01/2022
1	Refractive Errors (Refractive Error) 01/2022
1	Drug Resistant Epilepsy 01/2021
1	Insulin-Like Growth Factor I Deficiency 11/2017
1	Kleefstra Syndrome 10/2017
1	Autism Spectrum Disorder 10/2017
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2016
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 01/2016
1	Air Embolism (Gas Embolism) 08/2015
1	Episodic Ataxia 05/2015
1	Familial cyclic vomiting syndrome 05/2015
1	Clinical Deterioration 11/2012
1	Infections 08/2011
1	Hemolysis 11/2003
1	HELLP Syndrome 11/2003
1	Short chain Acyl CoA dehydrogenase deficiency 11/2003

Drug/Important Bio-Agent (IBA)

8	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2022 - 10/2007
5	Lysine (L-Lysine)FDA Link 01/2021 - 08/2011
4	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 10/2007
2	Retinaldehyde (Retinal)IBA 01/2022 - 08/2011
2	DNA (Deoxyribonucleic Acid)IBA 01/2022 - 11/2003
2	EnzymesIBA 01/2021 - 11/2003
2	Biomarkers (Surrogate Marker)IBA 01/2021 - 01/2016
2	Vitamin B 6IBA 01/2021 - 01/2016
2	Anticonvulsants (Antiepileptic Drugs)IBA 09/2012 - 10/2007
2	allysineIBA 10/2007 - 08/2007
1	thymidine 5'-triphosphate (thymidine triphosphate)IBA 01/2022
1	rho GTP-Binding Proteins (rho GTP-Binding Protein)IBA 01/2018
1	Growth Hormone (Somatotropin)IBA 11/2017
1	Growth Hormone-Releasing Hormone (Somatotropin Releasing Hormone)IBA 11/2017
1	Insulin-Like PeptidesIBA 11/2017
1	Histone MethyltransferasesIBA 10/2017
1	EuchromatinIBA 10/2017
1	VitaminsIBA 01/2016
1	PyridoxamineIBA 01/2016
1	Alkaline PhosphataseIBA 01/2016
1	PyridoxalIBA 01/2016
1	Pyridoxic AcidIBA 01/2016
1	Pizotyline (BC 105)IBA 05/2015
1	pipecolic acidIBA 11/2012
1	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 11/2003
1	acylcarnitineIBA 11/2003
1	ethylmalonic acid (ethylmalonate)IBA 11/2003

Therapy/Procedure

5	Therapeutics 01/2022 - 03/2010
1	Continuity of Patient Care 09/2022
1	Orthoptics (Orthoptic) 01/2022
1	Cardiopulmonary Resuscitation (CPR) 08/2015
1	Resuscitation 08/2015
1	Cesarean Section (Caesarean Section) 02/2012