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Jos P N Ruiter

Showing results (1-10 of 43) with videos related to

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Journal of Lipid Research|March 12, 2017
Identification of enzymes involved in oxidation of phenylbutyrateNeža Palir, Jos P N Ruiter, Ronald J A Wanders, et al.
Journal of Inherited Metabolic Disease|May 22, 2010
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening resultsRonald J A Wanders, Jos P N Ruiter, Lodewijk IJLst, et al.
Molecular Genetics and Metabolism|August 29, 2006
An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometryNaomi van Vlies, Jos P N Ruiter, Mirjam Doolaard, et al.
American Journal of Medical Genetics. Part A|October 3, 2024
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein DeficiencyFatema Al-Amrani, Jos P N Ruiter, Mirjam Doolaard, et al.
American Journal of Human Genetics|November 16, 2002
3-Methylglutaconic aciduria type I is caused by mutations in AUHLodewijk IJlst, Ference J Loupatty, Jos P N Ruiter, et al.
Molecular Genetics and Metabolism|December 16, 2006
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) geneKeitaro Yamada, Toshiyuki Fukao, Gaixiu Zhang, et al.
The Journal of Pediatrics|October 2, 2010
Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemiaHans J Avis, Ian P Hargreaves, Jos P N Ruiter, et al.
Annals of Neurology|July 12, 2002
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiencyRegina Ensenauer, Helmut Niederhoff, Jos P N Ruiter, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Fatty acid oxidation in the human fetus: implications for fetal and adult diseaseNadia A Oey, Jos P N Ruiter, Tania Attié-Bitach, et al.
Clinical Chemistry|April 8, 2006
Real-time nucleic acid sequence-based amplification assay to quantify changes in mitochondrial DNA concentrations in cell cultures and blood cells from HIV-infected patients receiving antiviral therapyEveline C Timmermans, Pablo Tebas, Jos P N Ruiter, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
Journal of Lipid Research|March 12, 2017
Identification of enzymes involved in oxidation of phenylbutyrateNeža Palir, Jos P N Ruiter, Ronald J A Wanders, et al.
Journal of Inherited Metabolic Disease|May 22, 2010
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening resultsRonald J A Wanders, Jos P N Ruiter, Lodewijk IJLst, et al.
Molecular Genetics and Metabolism|August 29, 2006
An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometryNaomi van Vlies, Jos P N Ruiter, Mirjam Doolaard, et al.
American Journal of Medical Genetics. Part A|October 3, 2024
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein DeficiencyFatema Al-Amrani, Jos P N Ruiter, Mirjam Doolaard, et al.
American Journal of Human Genetics|November 16, 2002
3-Methylglutaconic aciduria type I is caused by mutations in AUHLodewijk IJlst, Ference J Loupatty, Jos P N Ruiter, et al.
Molecular Genetics and Metabolism|December 16, 2006
Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) geneKeitaro Yamada, Toshiyuki Fukao, Gaixiu Zhang, et al.
The Journal of Pediatrics|October 2, 2010
Rosuvastatin lowers coenzyme Q10 levels, but not mitochondrial adenosine triphosphate synthesis, in children with familial hypercholesterolemiaHans J Avis, Ian P Hargreaves, Jos P N Ruiter, et al.
Annals of Neurology|July 12, 2002
Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiencyRegina Ensenauer, Helmut Niederhoff, Jos P N Ruiter, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
Fatty acid oxidation in the human fetus: implications for fetal and adult diseaseNadia A Oey, Jos P N Ruiter, Tania Attié-Bitach, et al.
Clinical Chemistry|April 8, 2006
Real-time nucleic acid sequence-based amplification assay to quantify changes in mitochondrial DNA concentrations in cell cultures and blood cells from HIV-infected patients receiving antiviral therapyEveline C Timmermans, Pablo Tebas, Jos P N Ruiter, et al.
Pageof 5