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American Journal of Human Genetics|May 11, 2006
Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathyS Ferdinandusse, P Kostopoulos, S Denis, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfallR J Soorani-Lunsing, F J van Spronsen, I Stolte-Dijkstra, et al.Clinical Genetics|April 2, 2015
Diagnostic pitfall in antenatal manifestations of CPT II deficiencyF Boemer, M Deberg, R Schoos, et al.Nature Genetics|November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase geneG A Jansen, R Ofman, S Ferdinandusse, et al.Journal of Lipid Research|January 18, 2005
A phytol-enriched diet induces changes in fatty acid metabolism in mice both via PPARalpha-dependent and -independent pathwaysJ Gloerich, N van Vlies, G A Jansen, et al.Nature Genetics|February 2, 2000
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathyS Ferdinandusse, S Denis, P T Clayton, et al.American Journal of Human Genetics|May 7, 2002
Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional proteinS Ferdinandusse, E G van Grunsven, W Oostheim, et al.Pageof 3