Niels Gregersen Selected Research

Medium chain acyl CoA dehydrogenase deficiency

10/2020	Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
6/2012	MCAD deficiency in Denmark.
10/2010	A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
10/2008	Mitochondrial fatty acid oxidation defects--remaining challenges.
3/2007	Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.

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Niels Gregersen Research Topics

Disease

10	Short chain Acyl CoA dehydrogenase deficiency 01/2021 - 09/2002
9	Neurogenic Diabetes Insipidus (Central Diabetes Insipidus) 01/2018 - 07/2002
5	Medium chain acyl CoA dehydrogenase deficiency 10/2020 - 03/2007
4	Nephrogenic Diabetes Insipidus 09/2018 - 12/2009
3	Inborn Genetic Diseases (Disease, Hereditary) 07/2021 - 01/2003
3	VLCAD deficiency 01/2021 - 06/2010
3	Brain Diseases (Brain Disorder) 01/2018 - 05/2011
3	Mitochondrial Diseases (Mitochondrial Disease) 01/2017 - 08/2007
3	Ethylmalonic encephalopathy 04/2016 - 05/2011
3	Metabolic Diseases (Metabolic Disease) 12/2011 - 04/2003
2	Inborn Errors Metabolism (Inborn Errors of Metabolism) 05/2020 - 06/2016
2	Dehydration (Water Stress) 09/2017 - 06/2013
2	Neoplasms (Cancer) 01/2014 - 01/2011
2	Cholesteatoma 01/2014 - 01/2014
2	Muscular Diseases (Myopathy) 04/2011 - 02/2008
2	Seizures (Absence Seizure) 04/2011 - 10/2010
2	Hereditary Spastic Paraplegia 06/2008 - 05/2002
1	Fatigue 01/2021
1	Hypoxia (Hypoxemia) 01/2018
1	Ischemia 01/2018
1	Intellectual Disability (Idiocy) 09/2017
1	Ketosis 08/2017
1	Bartter Syndrome (Syndrome, Bartter) 01/2017
1	Mental Disorders (Mental Disorder) 01/2016
1	Neurologic Manifestations (Neurological Manifestations) 09/2014
1	Maple Syrup Urine Disease 09/2014
1	Psoriasis (Pustulosis Palmaris et Plantaris) 01/2014
1	Coenzyme Q10 Deficiency 10/2013
1	Necrosis 01/2013
1	Proteinuria 08/2012
1	Trifunctional Protein Deficiency With Myopathy And Neuropathy 02/2011
1	Proteostasis Deficiencies 01/2011

Drug/Important Bio-Agent (IBA)

19	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2003
12	Fatty Acids (Saturated Fatty Acids)IBA 01/2021 - 11/2003
8	Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA 01/2021 - 04/2003
6	Arginine Vasopressin (Argipressin)IBA 01/2018 - 01/2004
5	Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA 10/2020 - 06/2004
5	Riboflavin (Vitamin B2)FDA LinkGeneric 05/2020 - 08/2007
4	ethylmalonic acid (ethylmalonate)IBA 01/2021 - 09/2002
4	DNA (Deoxyribonucleic Acid)IBA 01/2017 - 04/2003
3	AntioxidantsIBA 10/2020 - 06/2010
3	Vasopressins (Vasopressin)IBA 09/2018 - 07/2002
3	Pharmaceutical PreparationsIBA 01/2014 - 07/2010
3	Acyl Coenzyme A (Acyl CoA)IBA 10/2013 - 10/2008
3	acylcarnitineIBA 05/2013 - 11/2003
3	EnzymesIBA 06/2010 - 11/2003
3	ChaperoninsIBA 06/2008 - 05/2002
2	Biomarkers (Surrogate Marker)IBA 07/2021 - 01/2018
2	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA 01/2021 - 12/2016
2	Sulfides (Thioethers)IBA 05/2011 - 07/2010
1	Peroxisome Proliferator-Activated Receptors (PPAR)IBA 01/2021
1	Sulfhydryl Compounds (Thiols)IBA 01/2021
1	BezafibrateIBA 01/2021
1	Thioctic Acid (Lipoic Acid)IBA 10/2020
1	Antidiuretic AgentsIBA 09/2018
1	Protein Sorting Signals (Signal Peptide)IBA 01/2018
1	RNA (Ribonucleic Acid)IBA 01/2018
1	butyrylcarnitineIBA 09/2017
1	3-hydroxybutanal (aldol)IBA 08/2017
1	Pyruvaldehyde (Methylglyoxal)IBA 08/2017
1	acetoacetic acid (acetoacetate)IBA 08/2017
1	KetonesIBA 08/2017
1	BuffersIBA 08/2017
1	Member 1 Solute Carrier Family 12IBA 01/2017
1	Reactive Oxygen Species (Oxygen Radicals)IBA 01/2017
1	Chaperonin 60IBA 12/2016
1	Flavin-Adenine Dinucleotide (FAD)IBA 06/2016
1	sulfur dioxygenaseIBA 04/2016
1	Electron Transport Complex IV (Cytochrome c Oxidase)IBA 04/2016
1	Hydrogen Sulfide (Sulfide, Hydrogen)IBA 04/2016
1	Protein Isoforms (Isoforms)IBA 01/2016
1	ChromatinIBA 01/2016
1	Aquaporin 2IBA 12/2015
1	Aquaporins (Water Channels)IBA 12/2015
1	1- Methyl- 4- phenyl- 1,2,3,6- tetrahydropyridine (MPTP)IBA 09/2014
1	Epidermal Growth Factor (EGF)IBA 01/2014
1	Interleukin-15 (Interleukin 15)IBA 01/2014
1	ChemokinesIBA 01/2014
1	Interleukin-13IBA 01/2014
1	Interleukin-12 (IL 12)IBA 01/2014
1	Interleukin-2 (IL2)IBA 01/2014
1	Interleukin-10 (Interleukin 10)IBA 01/2014
1	Interleukin-8 (Interleukin 8)IBA 01/2014
1	CytokinesIBA 01/2014
1	Interleukin-7 (Interleukin 7)IBA 01/2014
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2014
1	S100 Proteins (S 100 Protein)IBA 01/2014
1	Interleukin-6 (Interleukin 6)IBA 01/2014
1	Interleukin-5 (Interleukin 5)IBA 01/2014
1	Interleukin-4 (Interleukin 4)IBA 01/2014
1	interleukin-21 (interleukin 21)IBA 01/2014
1	Deamino Arginine Vasopressin (Desmopressin)FDA LinkGeneric 06/2013
1	AcidsIBA 05/2013
1	Cadherins (E-Cadherin)IBA 08/2012
1	Nitric Oxide (Nitrogen Monoxide)FDA Link 05/2011
1	3-Hydroxyacyl-CoA DehydrogenaseIBA 02/2011
1	celastrolIBA 01/2011
1	Plant ExtractsIBA 01/2011

Therapy/Procedure

1	Fluid Therapy (Oral Rehydration Therapy) 09/2017
1	Chinese Traditional Medicine (Traditional Chinese Medicine) 01/2011