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N Gregersen Selected Research

Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)

9/2008Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
1/2003Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.
1/2002Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.
9/2001Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship.
1/2001Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

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N Gregersen Research Topics

Disease

6Short chain Acyl CoA dehydrogenase deficiency
06/2010 - 01/2001
3VLCAD deficiency
01/2016 - 01/2001
2Multiple Acyl Coenzyme A Dehydrogenase Deficiency
12/2011 - 04/2003
2Trifunctional Protein Deficiency With Myopathy And Neuropathy
01/2005 - 04/2001
2Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
06/2001 - 10/2000
2Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
03/2000 - 03/2000
1Neurogenic Diabetes Insipidus (Central Diabetes Insipidus)
01/2013
1Hereditary Spastic Paraplegia
05/2008
1Diarrhea
04/2007
1Purpura
04/2007
1Ethylmalonic encephalopathy
10/2006
1Cardiomyopathies (Cardiomyopathy)
01/2005
1Rhabdomyolysis
01/2005
1Respiratory Insufficiency (Respiratory Failure)
01/2004
1Myopathy with Abnormal Lipid Metabolism
01/2004
1Vomiting
01/2003
1Cardiovascular Diseases (Cardiovascular Disease)
06/2002
1Vascular Diseases (Vascular Disease)
06/2002
1Medium chain acyl CoA dehydrogenase deficiency
06/2001
1Acute fatty liver of pregnancy
04/2001
1Hypertrophic Cardiomyopathy (Hypertrophic Obstructive Cardiomyopathy)
04/2001
1Alzheimer Disease (Alzheimer's Disease)
04/2001
1Pregnancy Complications
04/2001
12-Methylbutyryl-CoA Dehydrogenase Deficiency
11/2000
1Infectious Mononucleosis (Glandular Fever)
10/2000
1Hodgkin Disease (Hodgkin's Disease)
10/2000
1Inborn Genetic Diseases (Disease, Hereditary)
07/2000

Drug/Important Bio-Agent (IBA)

5Fatty Acids (Saturated Fatty Acids)IBA
12/2011 - 01/2001
5Butyryl-CoA Dehydrogenase (Short-Chain Acyl-CoA Dehydrogenase)IBA
09/2008 - 01/2001
3Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
01/2016 - 01/2001
2Riboflavin (Vitamin B2)FDA LinkGeneric
12/2011 - 04/2007
2Oxidoreductases (Dehydrogenase)IBA
12/2011 - 04/2001
2Electron-Transferring Flavoproteins (Electron Transfer Flavoprotein)IBA
12/2011 - 04/2003
2Peptide Hydrolases (Proteases)FDA Link
05/2008 - 04/2001
2LDL Receptors (LDL Receptor)IBA
06/2002 - 10/2000
2Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
09/2001 - 06/2001
2Mutant Proteins (Protein, Mutant)IBA
04/2001 - 07/2000
2Keratins (Keratin)IBA
03/2000 - 03/2000
1Arginine Vasopressin (Argipressin)IBA
01/2013
1UbiquinoneIBA
12/2011
1isobutyryl-1-carnitineIBA
10/2006
1Mitochondrial Trifunctional ProteinIBA
01/2005
13-Hydroxyacyl-CoA DehydrogenaseIBA
01/2005
1Acyl Coenzyme A (Acyl CoA)IBA
01/2004
1electron-transferring-flavoprotein dehydrogenase (ETF dehydrogenase)IBA
04/2003
1LDL Lipoproteins (beta Lipoproteins)IBA
06/2002
1LDL CholesterolIBA
06/2002
1acylcarnitineIBA
06/2001
1FluvastatinFDA Link
06/2001
1Proteins (Proteins, Gene)FDA Link
04/2001
1Biomarkers (Surrogate Marker)IBA
01/2001
1Acyl-CoA DehydrogenasesIBA
11/2000
1EnzymesIBA
11/2000
1Isoleucine (L-Isoleucine)FDA Link
11/2000
1Valine (L-Valine)FDA Link
11/2000
1Transcription Factors (Transcription Factor)IBA
10/2000
1Membrane Proteins (Integral Membrane Proteins)IBA
10/2000

Therapy/Procedure

1Therapeutics
04/2007