Clara D M van Karnebeek Selected Research

Pyridoxine (Pyridoxin)

1/2022	Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
1/2022	Clinical Reasoning: Pediatric Seizures of Unknown Cause.
1/2021	Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
1/2019	The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
1/2019	Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
12/2017	Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
1/2016	Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
9/2015	Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
2/2015	Current treatment and management of pyridoxine-dependent epilepsy.
11/2012	Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

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Clara D M van Karnebeek Research Topics

Disease

13	Seizures (Absence Seizure) 01/2022 - 03/2012
11	Epilepsy (Aura) 12/2022 - 01/2014
10	Pyridoxine-dependent epilepsy 01/2022 - 11/2012
9	Brain Diseases (Brain Disorder) 01/2021 - 09/2015
8	Intellectual Disability (Idiocy) 01/2022 - 03/2012
8	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021 - 03/2012
4	Hypoglycemia (Reactive Hypoglycemia) 01/2022 - 01/2016
4	Guanidinoacetate methyltransferase deficiency 06/2021 - 07/2014
4	Muscle Hypotonia (Hypotonia) 01/2018 - 08/2014
3	Acidosis 01/2022 - 10/2016
3	Atrophy 01/2021 - 04/2015
2	Failure to Thrive 01/2022 - 03/2016
2	Infections 01/2022 - 11/2021
2	Developmental Disabilities (Developmental Disability) 01/2022 - 10/2015
2	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021 - 01/2021
2	Ataxia (Dyssynergia) 11/2019 - 09/2016
2	Movement Disorders (Movement Disorder) 01/2019 - 01/2018
2	Hyperammonemia 01/2019 - 10/2016
2	Dystonia (Limb Dystonia) 01/2018 - 09/2016
2	Rare Diseases (Rare Disease) 12/2017 - 03/2012
2	Channelopathies 09/2016 - 01/2016
1	Congenital Disorders of Glycosylation 12/2022
1	Macular Degeneration (Age-Related Maculopathy) 11/2022
1	Albinism 11/2022
1	Pigmentation Disorders (Ito Syndrome) 11/2022
1	Metabolic Bone Diseases (Osteopenia) 01/2022
1	Vomiting 01/2022
1	Weight Loss (Weight Reduction) 06/2021
1	Autistic Disorder (Autism) 06/2021
1	Diabetes Mellitus 01/2021
1	Thrombocytopenia (Thrombopenia) 01/2021
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2021
1	Phenylketonurias (Phenylketonuria) 01/2021
1	Hereditary Folate Malabsorption 01/2020
1	Metabolic Diseases (Metabolic Disease) 03/2019
1	NGLY1 deficiency 01/2019
1	Sitosterolemia 01/2019
1	Mitochondrial encephalopathy 01/2019
1	Fever (Fevers) 01/2019
1	Homocystinuria 01/2019
1	Mucopolysaccharidoses 01/2019
1	Hyperlactatemia 01/2019
1	Dihydropyrimidine Dehydrogenase Deficiency 01/2018
1	Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy) 01/2018

Drug/Important Bio-Agent (IBA)

10	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2022 - 11/2012
8	Lysine (L-Lysine)FDA Link 01/2022 - 11/2012
5	CreatineIBA 06/2021 - 03/2012
4	Neurotransmitter Agents (Neurotransmitter)IBA 12/2022 - 01/2016
4	Lactic Acid (Lactate)FDA LinkGeneric 01/2021 - 10/2016
3	Biomarkers (Surrogate Marker)IBA 11/2021 - 01/2019
3	Amino Acids FDA Link 11/2021 - 03/2012
3	Guanidinoacetate N-Methyltransferase (Guanidinoacetate Methyltransferase)IBA 06/2021 - 01/2016
3	X-linked Creatine deficiencyIBA 06/2021 - 08/2014
3	EnzymesIBA 01/2021 - 01/2019
3	Leucovorin (Folinic Acid)FDA Link 01/2020 - 01/2016
3	Proteins (Proteins, Gene)FDA Link 01/2018 - 01/2016
3	AcidsIBA 01/2017 - 03/2012
2	Oxidoreductases (Dehydrogenase)IBA 01/2022 - 01/2021
2	ElectrolytesIBA 01/2022 - 01/2016
2	pipecolic acidIBA 11/2021 - 11/2012
2	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2021 - 10/2017
2	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 03/2012
2	Serine (L-Serine)FDA Link 01/2021 - 01/2019
2	VitaminsIBA 01/2019 - 03/2012
2	Transfer RNA (tRNA)IBA 01/2018 - 04/2015
2	AminesIBA 01/2018 - 01/2016
2	Arginine (L-Arginine)FDA Link 09/2015 - 07/2014
2	Therapeutic UsesIBA 04/2014 - 03/2012
1	Melanins (Melanin)IBA 11/2022
1	Retinaldehyde (Retinal)IBA 11/2022
1	Biotin (Vitamin H)FDA Link 01/2022
1	AntioxidantsIBA 01/2022
1	Pantothenic Acid (Calcium Pantothenate)FDA Link 01/2022
1	Thioctic Acid (Lipoic Acid)IBA 01/2022
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2022
1	Oxygen (Dioxygen)IBA 11/2021
1	Betaine (C.B.B.)FDA Link 06/2021
1	Bumetanide (Bumex)FDA LinkGeneric 06/2021
1	LDL CholesterolIBA 01/2021
1	AmmoniaIBA 01/2021
1	Advanced Glycation End ProductsIBA 01/2021
1	alpha-glycerophosphoric acid (sodium glycerophosphate)IBA 01/2021
1	Congenital disorder of glycosylation type 1AIBA 01/2021
1	Phenylalanine (L-Phenylalanine)FDA Link 01/2021
1	Adenosine Monophosphate (AMP)IBA 01/2021
1	Proton-Coupled Folate TransporterIBA 01/2020
1	Folic Acid (Vitamin M)FDA LinkGeneric 01/2020
1	Glutamine (L-Glutamine)FDA Link 11/2019
1	Growth Hormone (Somatotropin)IBA 10/2019
1	N-acetylglucosaminylasparagineIBA 01/2019
1	malic acid (malate)IBA 01/2019
1	Aspartic Acid (Aspartate)FDA Link 01/2019
1	Fatty Acids (Saturated Fatty Acids)IBA 01/2019
1	UridineIBA 01/2019
1	Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine AmidaseIBA 01/2019
1	MagnesiumIBA 11/2018
1	Serotonin (5 Hydroxytryptamine)IBA 01/2018

Therapy/Procedure

14	Therapeutics 01/2022 - 03/2012
1	Enteral Nutrition (Feeding, Tube) 11/2021
1	Oral Administration 01/2020