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C Jakobs

Showing results (351-360 of 417) with videos related to

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American Journal of Medical Genetics. Part A|January 15, 2005
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardationH Caldeira Araújo, W Smit, N M Verhoeven, et al.
Analytical Biochemistry|February 22, 2001
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolitesM F Silva, J P Ruiter, L IJlst, et al.
Journal of Internal Medicine|May 3, 2000
Hyperhomocysteinaemia is not associated with isolated crural arterial occlusive disease: The Hoorn StudyE K Hoogeveen, P J Kostense, C Jakobs, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Glutaric aciduria type I: pathomechanisms of neurodegenerationK Ullrich, B Flott-Rahmel, P Schluff, et al.
Biochemical Pharmacology|May 22, 2010
Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cellsI V Bijnsdorp, K Azijli, E E Jansen, et al.
European Journal of Clinical Nutrition|September 10, 2005
[6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adultsK de Meer, Y M Smulders, J R Dainty, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresisJ A Smeitink, F A Beemer, M Espeel, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?B T Poll-The, J P Bonnefont, H Ogier, et al.
Analytical Biochemistry|March 9, 2004
5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolismR M Kok, D E C Smith, J R Dainty, et al.
Molecular Genetics and Metabolism|January 4, 2011
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screeningM M C Wamelink, E A Struys, E E W Jansen, et al.
Pageof 42

Showing results (351-360 of 417) with videos related to

Sort By:
Pageof 42
American Journal of Medical Genetics. Part A|January 15, 2005
Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardationH Caldeira Araújo, W Smit, N M Verhoeven, et al.
Analytical Biochemistry|February 22, 2001
Synthesis and intramitochondrial levels of valproyl-coenzyme A metabolitesM F Silva, J P Ruiter, L IJlst, et al.
Journal of Internal Medicine|May 3, 2000
Hyperhomocysteinaemia is not associated with isolated crural arterial occlusive disease: The Hoorn StudyE K Hoogeveen, P J Kostense, C Jakobs, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
Glutaric aciduria type I: pathomechanisms of neurodegenerationK Ullrich, B Flott-Rahmel, P Schluff, et al.
Biochemical Pharmacology|May 22, 2010
Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cellsI V Bijnsdorp, K Azijli, E E Jansen, et al.
European Journal of Clinical Nutrition|September 10, 2005
[6S]5-methyltetrahydrofolate or folic acid supplementation and absorption and initial elimination of folate in young and middle-aged adultsK de Meer, Y M Smulders, J R Dainty, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Bone dysplasia associated with phytanic acid accumulation and deficient plasmalogen synthesis: a peroxisomal entity amenable to plasmapheresisJ A Smeitink, F A Beemer, M Espeel, et al.
Journal of Inherited Metabolic Disease|January 1, 1988
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?B T Poll-The, J P Bonnefont, H Ogier, et al.
Analytical Biochemistry|March 9, 2004
5-Methyltetrahydrofolic acid and folic acid measured in plasma with liquid chromatography tandem mass spectrometry: applications to folate absorption and metabolismR M Kok, D E C Smith, J R Dainty, et al.
Molecular Genetics and Metabolism|January 4, 2011
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screeningM M C Wamelink, E A Struys, E E W Jansen, et al.
Pageof 42