Clara D M van Karnebeek Selected Research

Clara D M van Karnebeek Research Topics

Disease

13	Seizures (Absence Seizure) 01/2022 - 03/2012
12	Epilepsy (Aura) 01/2023 - 01/2014
11	Pyridoxine-dependent epilepsy 05/2024 - 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	Ataxia (Dyssynergia) 01/2024 - 09/2016
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	Infections 02/2024 - 11/2021
3	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2023 - 01/2021
3	Acidosis 01/2022 - 10/2016
3	Atrophy 01/2021 - 04/2015
2	Microcephaly 02/2024 - 04/2015
2	Hyperlipoproteinemia Type I (Lipoprotein Lipase Deficiency, Familial) 02/2024 - 02/2015
2	Muscular Diseases (Myopathy) 01/2023 - 07/2014
2	Failure to Thrive 01/2022 - 03/2016
2	Developmental Disabilities (Developmental Disability) 01/2022 - 10/2015
2	Hyperammonemia 01/2019 - 10/2016
2	Movement Disorders (Movement Disorder) 01/2019 - 01/2018
2	Dystonia (Limb Dystonia) 01/2018 - 09/2016
2	Rare Diseases (Rare Disease) 12/2017 - 03/2012
2	Channelopathies 09/2016 - 01/2016
1	Reinfection 02/2024
1	Pain (Aches) 02/2024
1	Pancreatitis 02/2024
1	Atopic Dermatitis (Atopic Eczema) 01/2023
1	Cardiac Edema 01/2023
1	Gastrointestinal Diseases (Functional Gastrointestinal Disorders) 01/2023
1	Inflammation (Inflammations) 01/2023
1	Eosinophilia 01/2023
1	Asthma (Bronchial Asthma) 01/2023
1	Optic Atrophy 01/2023
1	Anaphylaxis (Anaphylactic Shock) 01/2023
1	Food Hypersensitivity (Food Allergy) 01/2023
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	Vomiting 01/2022
1	Metabolic Bone Diseases (Osteopenia) 01/2022
1	Autistic Disorder (Autism) 06/2021
1	Weight Loss (Weight Reduction) 06/2021

Drug/Important Bio-Agent (IBA)

10	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2022 - 11/2012
9	Lysine (L-Lysine)FDA Link 05/2024 - 11/2012
5	CreatineIBA 06/2021 - 03/2012
4	EnzymesIBA 01/2023 - 01/2019
4	Neurotransmitter Agents (Neurotransmitter)IBA 12/2022 - 01/2016
4	Lactic Acid (Lactate)FDA LinkGeneric 01/2021 - 10/2016
3	Oxidoreductases (Dehydrogenase)IBA 05/2024 - 01/2021
3	N-Acetylneuraminic Acid (Sialic Acid)IBA 01/2023 - 10/2017
3	VitaminsIBA 01/2023 - 03/2012
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	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	5' Untranslated Regions (5' UTR)IBA 01/2024 - 01/2023
2	Glutamine (L-Glutamine)FDA Link 01/2024 - 11/2019
2	GlutaminaseIBA 01/2024 - 01/2023
2	PyridoxalIBA 01/2023 - 12/2017
2	ElectrolytesIBA 01/2022 - 01/2016
2	pipecolic acidIBA 11/2021 - 11/2012
2	Serine (L-Serine)FDA Link 01/2021 - 01/2019
2	Glucose (Dextrose)FDA LinkGeneric 01/2021 - 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	Iron-Sulfur ProteinsIBA 02/2024
1	Antiviral Agents (Antivirals)IBA 02/2024
1	ISIS 304801IBA 02/2024
1	Lipoprotein Lipase (Diacylglycerol Lipase)IBA 02/2024
1	Triglycerides (Triacylglycerol)IBA 02/2024
1	STAT6 Transcription FactorIBA 01/2023
1	Transcription Factors (Transcription Factor)IBA 01/2023
1	Immunoglobulin E (IgE)IBA 01/2023
1	N-acetylmannosamineIBA 01/2023
1	N-acetylneuraminate lyaseIBA 01/2023
1	Retinaldehyde (Retinal)IBA 11/2022
1	Melanins (Melanin)IBA 11/2022
1	Biotin (Vitamin H)FDA Link 01/2022
1	Anticonvulsants (Antiepileptic Drugs)IBA 01/2022
1	AntioxidantsIBA 01/2022
1	Pantothenic Acid (Calcium Pantothenate)FDA Link 01/2022
1	Thioctic Acid (Lipoic Acid)IBA 01/2022
1	Oxygen (Dioxygen)IBA 11/2021
1	Bumetanide (Bumex)FDA LinkGeneric 06/2021
1	Betaine (C.B.B.)FDA Link 06/2021
1	alpha-glycerophosphoric acid (sodium glycerophosphate)IBA 01/2021
1	AmmoniaIBA 01/2021
1	LDL CholesterolIBA 01/2021

Therapy/Procedure

14	Therapeutics 01/2022 - 03/2012
2	Oral Administration 01/2023 - 01/2020
1	Injections 02/2024
1	Diet Therapy (Therapy, Diet) 02/2024
1	Enteral Nutrition (Feeding, Tube) 11/2021