Niklas Darin Selected Research

Anticonvulsants (Antiepileptic Drugs)

11/2019

Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the PLPBP gene.

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Niklas Darin Research Topics

Disease

7	Narcolepsy 01/2019 - 04/2013
5	Mitochondrial Diseases (Mitochondrial Disease) 01/2023 - 09/2002
5	Muscular Diseases (Myopathy) 12/2020 - 02/2004
4	Epilepsy (Aura) 11/2019 - 07/2013
4	Brain Diseases (Brain Disorder) 09/2017 - 08/2006
3	Cardiomyopathies (Cardiomyopathy) 06/2023 - 08/2009
3	Pyruvate Dehydrogenase Complex Deficiency Disease 01/2022 - 02/2005
3	Mitochondrial Myopathies (Mitochondrial Myopathy) 01/2022 - 06/2005
3	Neurodegenerative Diseases (Neurodegenerative Disease) 10/2017 - 08/2006
2	Inborn Genetic Diseases (Disease, Hereditary) 06/2023 - 11/2019
2	Cytochrome-c Oxidase Deficiency 08/2020 - 05/2013
2	Seizures (Absence Seizure) 11/2019 - 12/2016
2	Gliosis 01/2019 - 10/2009
2	Ophthalmoplegia (External Ophthalmoplegia) 01/2019 - 01/2018
2	Ataxia (Dyssynergia) 01/2018 - 05/2014
2	Dystonia (Limb Dystonia) 02/2017 - 01/2017
2	Sleep Wake Disorders 01/2016 - 01/2016
2	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease) 01/2015 - 08/2006
2	Muscular Dystrophies (Muscular Dystrophy) 05/2014 - 04/2011
2	Nervous System Diseases (Neurological Disorders) 07/2013 - 01/2013
2	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 05/2009 - 12/2006
1	Dilated Cardiomyopathy (Cardiomyopathy, Congestive) 06/2023
1	2-Hydroxyglutaricaciduria 06/2023
1	Acute Liver Failure (Fulminant Hepatic Failure) 01/2023
1	Cataract (Cataracts) 01/2023
1	Disease Progression 01/2023
1	Anemia 01/2023
1	Infections 01/2023
1	Chronic Renal Insufficiency 03/2022
1	Fever (Fevers) 01/2022
1	Insulin Resistance 07/2021
1	Leukoencephalopathies 08/2020
1	Hyperlactatemia 11/2019
1	Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency 11/2019
1	Nonketotic Hyperglycinemia 11/2019
1	Contracture 01/2019
1	Scoliosis 01/2019
1	Mitochondrial encephalopathy 01/2019
1	Vision Disorders (Hemeralopia) 01/2019
1	Glutathionuria 01/2018
1	Leigh Disease (Leigh's Disease) 01/2018
1	Weight Gain 01/2018
1	Rare Diseases (Rare Disease) 01/2018
1	Sialorrhea 12/2017
1	Sialic Acid Storage Disease (Salla Disease) 10/2017
1	Thiamine Deficiency 09/2017
1	Vacuolar myopathy 08/2017
1	Absent corpus callosum cataract immunodeficiency 08/2017

Drug/Important Bio-Agent (IBA)

8	Biomarkers (Surrogate Marker)IBA 01/2021 - 12/2007
7	Mitochondrial DNA (mtDNA)IBA 01/2023 - 06/2005
7	Proteins (Proteins, Gene)FDA Link 01/2018 - 12/2006
6	EnzymesIBA 06/2023 - 05/2013
4	OrexinsIBA 01/2018 - 01/2015
3	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 08/2020 - 08/2006
3	Lactic Acid (Lactate)FDA LinkGeneric 01/2019 - 02/2005
3	DNA Polymerase gammaIBA 01/2018 - 08/2006
2	LipidsIBA 06/2023 - 07/2021
2	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 07/2021 - 09/2011
2	fibroblast growth factor 21IBA 01/2021 - 09/2011
2	Myosins (Myosin)IBA 12/2020 - 02/2004
2	Nonsense Codon (Nonsense Mutation)IBA 08/2020 - 12/2016
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 11/2019 - 12/2016
2	Pyridoxal Phosphate (Pyridoxal 5 Phosphate)IBA 11/2019 - 12/2016
2	Histone MethyltransferasesIBA 02/2017 - 01/2017
2	Ligases (Synthetase)IBA 12/2016 - 01/2015
2	AntigensIBA 01/2016 - 01/2015
2	Glucose (Dextrose)FDA LinkGeneric 01/2016 - 10/2009
2	VaccinesIBA 01/2016 - 01/2015
2	AutoantibodiesIBA 01/2016 - 01/2015
2	Myosin Heavy Chains (Myosin Heavy Chain)IBA 05/2005 - 02/2004
1	Isocitrate Dehydrogenase (Isocitrate Dehydrogenase (NAD+))IBA 06/2023
1	Phospholipids (Phosphatides)FDA LinkGeneric 06/2023
1	enasidenibIBA 06/2023
1	Enzyme Inhibitors (Inhibitors, Enzyme)IBA 06/2023
1	Cysteine (L-Cysteine)FDA Link 01/2023
1	Ribonucleases (Ribonuclease)IBA 01/2023
1	Pyruvate Dehydrogenase Complex (Dehydrogenase Complex, Pyruvate)IBA 01/2022
1	Growth Differentiation Factor 15IBA 01/2021
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 11/2019
1	VitaminsIBA 11/2019
1	Anticonvulsants (Antiepileptic Drugs)IBA 11/2019
1	Protons (Proton)IBA 01/2019
1	Amyloid (Amyloid Fibrils)IBA 01/2019
1	neuromelaninIBA 01/2019
1	gamma-Glutamyltransferase (gamma-Glutamyl Transpeptidase)IBA 01/2018
1	Glutathione (Reduced Glutathione)IBA 01/2018
1	Mitochondrial Proton-Translocating ATPases (Mitochondrial ATP Synthase)IBA 01/2018
1	thiobarbituric acidIBA 10/2017
1	N-Acetylneuraminic Acid (Sialic Acid)IBA 10/2017
1	Keto AcidsIBA 09/2017
1	Ketoglutaric Acids (Ketoglutaric Acid)IBA 09/2017
1	Thiamine (Aneurin)FDA Link 09/2017
1	AcidsIBA 09/2017
1	GlycogenIBA 08/2017

Therapy/Procedure

2	Therapeutics 06/2023 - 09/2002
2	Ligation 05/2009 - 12/2006
1	Gastrostomy 01/2019
1	Mechanical Ventilators (Ventilator) 01/2019
1	Cochlear Implants (Cochlear Implant) 12/2017
1	Hearing Aids (Hearing Aid) 12/2017