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Frits A Wijburg Selected Research

Short chain Acyl CoA dehydrogenase deficiency

10/2010Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
3/2010Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
8/2006Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
11/2003Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.

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Frits A Wijburg Research Topics

Disease

16Mucopolysaccharidosis I (Hurler Syndrome)
10/2019 - 05/2010
14Mucopolysaccharidoses
12/2021 - 12/2010
8Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
08/2015 - 08/2007
7Mucopolysaccharidosis III (Sanfilippo Syndrome)
01/2022 - 12/2010
7Fabry Disease (Fabry's Disease)
01/2019 - 02/2008
6VLCAD deficiency
01/2020 - 06/2005
6Cardiomyopathies (Cardiomyopathy)
01/2020 - 06/2005
6Hypoglycemia (Reactive Hypoglycemia)
01/2019 - 01/2002
5Lysosomal Storage Diseases (Lysosomal Storage Disease)
02/2015 - 02/2008
4Cardiovascular Diseases (Cardiovascular Disease)
08/2015 - 03/2011
4Disease Progression
03/2015 - 01/2002
4Trifunctional Protein Deficiency With Myopathy And Neuropathy
05/2014 - 01/2002
4Short chain Acyl CoA dehydrogenase deficiency
10/2010 - 11/2003
3Muscular Diseases (Myopathy)
01/2020 - 12/2015
3Renal Insufficiency (Renal Failure)
02/2008 - 02/2003
3Galactosemias (Galactosemia)
05/2005 - 05/2004
2Pyridoxine-dependent epilepsy
01/2022 - 01/2021
2Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
01/2021 - 01/2020
2Cardiac Arrhythmias (Arrythmia)
04/2020 - 01/2020
2Rhabdomyolysis
01/2020 - 06/2005
2Dysostoses
01/2019 - 03/2016
2Neurodegenerative Diseases (Neurodegenerative Disease)
11/2017 - 06/2015
2Hip Dislocation
03/2016 - 10/2013
2Bone Diseases (Bone Disease)
01/2016 - 01/2015
2Atherosclerosis
04/2015 - 08/2007
2Heart Failure
03/2015 - 05/2011
2Inflammation (Inflammations)
05/2014 - 03/2012
2Glycogen Storage Disease (Glycogenosis)
03/2012 - 02/2010
2Hypercholesterolemia
03/2012 - 03/2011
2Phenylketonurias (Phenylketonuria)
06/2011 - 02/2011
2Nephrocalcinosis
08/2006 - 02/2003
2Primary hyperoxaluria type 1
08/2006 - 08/2004
2Hyperoxaluria (Oxaluria)
08/2006 - 02/2003
2Hemolysis
06/2005 - 11/2003
1Developmental Disabilities (Developmental Disability)
01/2022
1Brain Diseases (Brain Disorder)
01/2021
1Birth Weight (Birth Weights)
11/2020
1Heart Diseases (Heart Disease)
01/2020
1Post-Traumatic Stress Disorders (Post Traumatic Stress Disorder)
01/2019
1Neurodevelopmental Disorders
03/2016
1Absent corpus callosum cataract immunodeficiency
03/2016
1Movement Disorders (Movement Disorder)
01/2016

Drug/Important Bio-Agent (IBA)

14EnzymesIBA
01/2021 - 02/2003
12Fatty Acids (Saturated Fatty Acids)IBA
04/2020 - 01/2002
10GlycosaminoglycansIBA
01/2016 - 05/2010
9Heparitin Sulfate (Heparan Sulfate)IBA
09/2021 - 06/2011
6Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
08/2015 - 08/2007
5Oxidoreductases (Dehydrogenase)IBA
01/2022 - 12/2005
4heparan sulfate sulfataseIBA
12/2021 - 01/2016
4LipidsIBA
01/2020 - 09/2009
4Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
01/2020 - 06/2005
4Iduronidase (alpha-L-Iduronidase)IBA
10/2019 - 05/2010
4Dermatan SulfateIBA
01/2015 - 12/2012
4Glucose (Dextrose)FDA LinkGeneric
03/2012 - 08/2008
3Pyridoxine (Pyridoxin)FDA LinkGeneric
01/2022 - 02/2003
3acylcarnitineIBA
01/2020 - 11/2003
3Biomarkers (Surrogate Marker)IBA
01/2017 - 10/2011
3Mitochondrial Trifunctional ProteinIBA
01/2013 - 06/2003
3Galactose (Galactopyranose)FDA LinkGeneric
05/2005 - 05/2004
2hexachlorocyclohexane x-factorIBA
01/2021 - 01/2020
2Carnitine (L-Carnitine)FDA LinkGeneric
11/2020 - 01/2020
2Carnitine palmitoyl transferase 2 deficiencyIBA
01/2020 - 05/2014
2N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA
11/2017 - 12/2010
2GenisteinIBA
01/2015 - 09/2014
2Coenzyme A (CoA)IBA
05/2014 - 08/2006
2Acyl Coenzyme A (Acyl CoA)IBA
01/2013 - 08/2006
2DNA (Deoxyribonucleic Acid)IBA
07/2012 - 11/2003
2alpha-Galactosidase (Beano)IBA
01/2012 - 02/2008
2Proteins (Proteins, Gene)FDA Link
10/2011 - 06/2010
2Phenylalanine (L-Phenylalanine)FDA Link
06/2011 - 02/2011
2Riboflavin (Vitamin B2)FDA LinkGeneric
02/2011 - 03/2010
2AcidsIBA
11/2010 - 06/2010
2ethylmalonic acid (ethylmalonate)IBA
03/2010 - 11/2003
2Flavin-Adenine Dinucleotide (FAD)IBA
03/2010 - 12/2005
2Pravastatin (Pravachol)FDA LinkGeneric
06/2008 - 08/2007
2glyoxylic acid (glyoxylate)IBA
08/2006 - 08/2004
23-Hydroxyacyl-CoA DehydrogenaseIBA
06/2005 - 01/2002
2UTP-Hexose-1-Phosphate Uridylyltransferase (UTP Hexose 1 Phosphate Uridylyltransferase)IBA
05/2005 - 05/2004
1Lysine (L-Lysine)FDA Link
01/2021
1ResveratrolIBA
04/2020
1etomoxirIBA
04/2020
1CarbohydratesIBA
01/2020
1Protons (Proton)IBA
01/2020
1Long-Chain-3-Hydroxyacyl-CoA DehydrogenaseIBA
01/2020
14-amino-4'-hydroxylaminodiphenylsulfone (HADS)IBA
01/2019
1agalsidase betaFDA Link
01/2019
1Hypoglycemic Agents (Hypoglycemics)IBA
01/2019
1Triglycerides (Triacylglycerol)IBA
01/2019
1HydrolasesIBA
11/2017
1globotriaosyl lysosphingolipidIBA
01/2017
1GlycogenIBA
03/2016
1Vitamin B 12 (Cyanocobalamin)FDA LinkGeneric
01/2016
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
01/2016
1Pharmaceutical PreparationsIBA
01/2016
1long-chain-alcohol dehydrogenaseIBA
12/2015

Therapy/Procedure

16Therapeutics
01/2022 - 01/2002
10Enzyme Replacement Therapy
12/2021 - 05/2010
5Hematopoietic Stem Cell Transplantation
03/2016 - 05/2010
3Cell Transplantation
01/2017 - 05/2010
1Activities of Daily Living (ADL)
01/2019