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Clinica Chimica Acta; International Journal of Clinical Chemistry|July 6, 2000
Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycleW Röschinger, A C Muntau, M Duran, et al.Journal of Inherited Metabolic Disease|July 17, 1999
Disorders of mitochondrial fatty acyl-CoA beta-oxidationR J Wanders, P Vreken, M E den Boer, et al.Journal of Inherited Metabolic Disease|September 13, 2012
Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo diseaseJ de Ruijter, L Ijlst, W Kulik, et al.Biochemical and Biophysical Research Communications|November 16, 1992
Human trifunctional protein deficiency: a new disorder of mitochondrial fatty acid beta-oxidationR J Wanders, L IJlst, F Poggi, et al.Chemico-Biological Interactions|September 22, 2001
Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acidsM F Silva, J P Ruiter, L IJlst, et al.Pediatric Research|December 1, 1990
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhoodF Rocchiccioli, R J Wanders, P Aubourg, et al.Prenatal Diagnosis|June 1, 1993
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at riskC Pérez-Cerdá, B Merinero, A Jiménez, et al.European Journal of Clinical Investigation|January 11, 2005
Identification of fatty acid oxidation disorder patients with lowered acyl-CoA thioesterase activity in human skin fibroblastsM C Hunt, J Ruiter, P Mooyer, et al.Journal of Lipid Research|December 20, 1999
Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activitiesE C de Vet, L Ijlst, W Oostheim, et al.Journal of the Neurological Sciences|February 13, 2001
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndromeM A Willemsen, J J Rotteveel, J G de Jong, et al.Pageof 6