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Molecular Genetics and Metabolism
|
October 25, 2016
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
Marli Dercksen, Marinus Duran, Lodewijk IJlst, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2008
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening
Sabine Illsinger, Thomas Lücke, Michael Peter, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases
Bwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
Clinical Chemistry
|
January 21, 2006
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene
Anibh M Das, Sabine Illsinger, Thomas Lücke, et al.
Journal of Inherited Metabolic Disease
|
December 21, 2010
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
Stinne P Schmidt, Thomas J Corydon, Christina B Pedersen, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
December 18, 2013
Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase
Michel van Weeghel, Rob Ofman, Carmen A Argmann, et al.
Molecular Genetics and Metabolism
|
February 10, 2006
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
Ference J Loupatty, Annemarie van der Steen, Lodewijk Ijlst, et al.
Biochimica Et Biophysica Acta
|
August 21, 2007
Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation
Paula B M Luís, Jos P N Ruiter, Cátia C P Aires, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals
|
March 25, 2011
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway
Paula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, et al.
Mitochondrion
|
February 26, 2019
Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions
Aziza A A Adam, Vincent A van der Mark, Jos P N Ruiter, et al.
Page
of 5
Search research articles
Search
Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
Molecular Genetics and Metabolism
|
October 25, 2016
A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue
Marli Dercksen, Marinus Duran, Lodewijk IJlst, et al.
American Journal of Medical Genetics. Part A
|
October 18, 2008
Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening
Sabine Illsinger, Thomas Lücke, Michael Peter, et al.
Molecular Genetics and Metabolism
|
April 3, 2004
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases
Bwee Tien Poll-The, Ronald J A Wanders, Jos P N Ruiter, et al.
Clinical Chemistry
|
January 21, 2006
Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene
Anibh M Das, Sabine Illsinger, Thomas Lücke, et al.
Journal of Inherited Metabolic Disease
|
December 21, 2010
Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase
Stinne P Schmidt, Thomas J Corydon, Christina B Pedersen, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology
|
December 18, 2013
Identification and characterization of Eci3, a murine kidney-specific Δ3,Δ2-enoyl-CoA isomerase
Michel van Weeghel, Rob Ofman, Carmen A Argmann, et al.
Molecular Genetics and Metabolism
|
February 10, 2006
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
Ference J Loupatty, Annemarie van der Steen, Lodewijk Ijlst, et al.
Biochimica Et Biophysica Acta
|
August 21, 2007
Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation
Paula B M Luís, Jos P N Ruiter, Cátia C P Aires, et al.
Drug Metabolism and Disposition: the Biological Fate of Chemicals
|
March 25, 2011
Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway
Paula B M Luís, Jos P N Ruiter, Lodewijk Ijlst, et al.
Mitochondrion
|
February 26, 2019
Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions
Aziza A A Adam, Vincent A van der Mark, Jos P N Ruiter, et al.
Page
of 5