Showing results (371-380 of 1,319) with videos related to

Sort By:
Pageof 132
Human Molecular Genetics|May 23, 1998
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2R Ofman, E H Hettema, E M Hogenhout, et al.
Journal of Inherited Metabolic Disease|April 7, 2004
Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophyM A Kurian, S Ryan, G T N Besley, et al.
BMJ Case Reports|June 21, 2011
Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiencySian A Thompson, Jacqui Calvin, Sarah Hogg, et al.
Biochemical and Biophysical Research Communications|September 16, 1999
Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acidsS Ferdinandusse, J Mulders, L IJlst, et al.
Journal of the Neurological Sciences|August 1, 1996
Evidence against increased oxidative stress in fibroblasts from patients with non-superoxide-dismutase-1 mutant familial amyotrophic lateral sclerosisG A Jansen, R J Wanders, G J Jöbsis, et al.
Journal of Pediatric and Adolescent Gynecology|August 4, 2009
Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patientsRoel Nijland, Francis E Hartog, Ron A Wevers, et al.
Brain : a Journal of Neurology|November 22, 2008
Plasmalogens participate in very-long-chain fatty acid-induced pathologyPedro Brites, Petra A W Mooyer, Leila El Mrabet, et al.
European Journal of Pediatrics|January 28, 2003
Complete deficiency of mitochondrial trifunctional protein due to a novel mutation within the beta-subunit of the mitochondrial trifunctional protein gene leads to failure of long-chain fatty acid beta-oxidation with fatal outcomeKarl Otfried Schwab, Regina Ensenauer, Dietrich Matern, et al.
European Journal of Pediatrics|July 1, 1990
Peroxisomal beta-oxidation defect with detectable peroxisomes: a case with neonatal onset and progressive courseP G Barth, R J Wanders, R B Schutgens, et al.
Annals of the Rheumatic Diseases|June 17, 2005
Association between radiographic damage of the spine and spinal mobility for individual patients with ankylosing spondylitis: can assessment of spinal mobility be a proxy for radiographic evaluation?A Wanders, R Landewé, M Dougados, et al.
Pageof 132