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Jos P N Ruiter Selected Research

long-chain-alcohol dehydrogenase

12/2015Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

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Jos P N Ruiter Research Topics

Disease

3Hyperammonemia
01/2019 - 01/2007
3Hypoglycemia (Reactive Hypoglycemia)
12/2013 - 06/2005
2Nervous System Diseases (Neurological Disorders)
12/2021 - 01/2021
2Cardiomyopathies (Cardiomyopathy)
12/2015 - 06/2005
2Mitochondrial Diseases (Mitochondrial Disease)
06/2010 - 04/2007
2Type I 3-Methylglutaconic Aciduria
08/2004 - 12/2002
2Syndromic 10 X-Linked Mental Retardation
04/2004 - 05/2002
13-Hydroxyisobutyric aciduria
01/2022
1Fever (Fevers)
01/2022
1Galactosemias (Galactosemia)
01/2020
1Multiple Acyl Coenzyme A Dehydrogenase Deficiency
01/2019
1Arthrogryposis
12/2018
1Microcephaly
12/2018
1Inborn Errors Metabolism (Inborn Errors of Metabolism)
12/2016
1Muscular Diseases (Myopathy)
12/2015
1VLCAD deficiency
12/2015
1Ketosis
11/2014
1Hyperlipoproteinemia Type II (Familial Hypercholesterolemia)
03/2011
1Inborn Genetic Diseases (Disease, Hereditary)
10/2010
1Succinyl-CoA:3-oxoacid CoA transferase deficiency
03/2007
1Hepatomegaly
01/2007
1Beta-Hydroxyisobutyryl CoA Deacylase Deficiency
01/2007
1HIV Infections (HIV Infection)
06/2006
1Trifunctional Protein Deficiency With Myopathy And Neuropathy
03/2006
12-Methylbutyryl-CoA Dehydrogenase Deficiency
02/2006
1Hydrops Fetalis (Fetal Edema)
06/2005
1Rhabdomyolysis
06/2005
1Acute fatty liver of pregnancy
06/2005
1Hemolysis
06/2005
1Fetal Growth Retardation (Intrauterine Growth Retardation)
06/2005
1Cerebral Palsy (Spastic Diplegia)
04/2004
1Brain Diseases (Brain Disorder)
04/2004
1Brain Injuries (Brain Injury)
04/2004

Drug/Important Bio-Agent (IBA)

9EnzymesIBA
01/2022 - 04/2004
7Fatty Acids (Saturated Fatty Acids)IBA
01/2019 - 04/2004
3Isoleucine (L-Isoleucine)FDA Link
02/2006 - 05/2002
2Valine (L-Valine)FDA Link
01/2022 - 01/2007
2Oxidoreductases (Dehydrogenase)IBA
01/2022 - 06/2010
2LipidsIBA
12/2021 - 01/2021
2Ether (Diethyl Ether)IBA
12/2021 - 01/2021
2Amino AcidsFDA Link
01/2019 - 12/2013
2Coenzyme A (CoA)IBA
12/2018 - 06/2010
2Pharmaceutical PreparationsIBA
12/2016 - 04/2007
2Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)IBA
12/2015 - 06/2005
2Mitochondrial Trifunctional ProteinIBA
03/2006 - 06/2005
13-hydroxyisobutyric acidIBA
01/2022
1Biomarkers (Surrogate Marker)IBA
01/2020
1N-acetyl glutamate synthetase deficiencyIBA
12/2016
1long-chain-alcohol dehydrogenaseIBA
12/2015
1KetonesIBA
11/2014
1Ketone BodiesIBA
11/2014
1Proteins (Proteins, Gene)FDA Link
11/2014
1Glucose (Dextrose)FDA LinkGeneric
12/2013
1Liver GlycogenIBA
12/2013
1Adenosine Triphosphate (ATP)IBA
03/2011
1coenzyme Q10 (CoQ10)IBA
03/2011
1Hydroxymethylglutaryl-CoA Reductase Inhibitors (HMG-CoA Reductase Inhibitors)IBA
03/2011
1Rosuvastatin Calcium (Crestor)FDA Link
03/2011
1AntioxidantsIBA
06/2010
1Acyl Coenzyme A (Acyl CoA)IBA
06/2010
1NucleotidesIBA
03/2007
1acylcarnitineIBA
01/2007
1Mitochondrial DNA (mtDNA)IBA
06/2006
13-Hydroxyacyl-CoA DehydrogenaseIBA
06/2005
1methylglutaconyl-CoA hydrataseIBA
08/2004
12-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase (2-methyl-3-hydroxybutyryl-CoA dehydrogenase)IBA
04/2004
1Nonsense Codon (Nonsense Mutation)IBA
12/2002

Therapy/Procedure

1Artificial Liver (Bioartificial Liver)
01/2019
1Therapeutics
03/2011
1Highly Active Antiretroviral Therapy (HAART)
06/2006