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Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids|February 8, 2019
Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle functionVaishnavi Raja, Michael Salsaa, Amit S Joshi, et al.Journal of Inherited Metabolic Disease|March 27, 2012
Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongationMarc Engelen, Martin J A Schackmann, Rob Ofman, et al.Cancer Research|December 21, 2006
Comparison of kinome profiles of Barrett's esophagus with normal squamous esophagus and normal gastric cardiaJantine W P M van Baal, Sander H Diks, Ronald J A Wanders, et al.Neurology|February 12, 2004
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survivalP G Barth, C B L M Majoie, J Gootjes, et al.JIMD Reports|February 23, 2013
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiencyEugène F Diekman, Carolien C A Boelen, Berthil H C M T Prinsen, et al.Journal of Inherited Metabolic Disease|August 20, 2015
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthoodKevin Berendse, Marc Engelen, Sacha Ferdinandusse, et al.Cellular and Molecular Life Sciences : CMLS|June 23, 2006
Farnesylation of Pex19p is not essential for peroxisome biogenesis in yeast and mammalian cellsI M K Vastiau, E A Anthonio, M Brams, et al.Orphanet Journal of Rare Diseases|July 10, 2013
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduriaJulien L Marcadier, Amanda M Smith, Daniela Pohl, et al.Human Mutation|August 21, 2008
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell linesMerel S Ebberink, Petra A W Mooyer, Janet Koster, et al.American Journal of Human Genetics|March 2, 2002
A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parentsAnnick Raas-Rothschild, Ronald J A Wanders, Petra A W Mooijer, et al.Pageof 48