Mitochondrial fatty acid oxidation deficiencies [electronic resource] / Niels Gregersen.
Material type:
FilmSeries: Henry Stewart talksBiomedical & life sciences collection. Protein epidemiology: Publisher: London : Henry Stewart Talks, 2007Description: 1 online resource (1 streaming video file (29 min.) : color, sound)Subject(s): Fatty acids -- Metabolism | Fatty acids -- Oxidation | Metabolism, Inborn errors of | Mitochondria | Proteins -- Metabolism | Acyl-CoA Dehydrogenases -- deficiency | Fatty Acids -- metabolism | Genetic Testing | Lipid Metabolism, Inborn Errors | Medium chain acyl CoA dehydrogenase deficiency | Mitochondria -- metabolism | Neonatal Screening | Oxidation-Reduction | Protein FoldingOnline resources: Click here to access online | Series Animated audio-visual presentation with synchronized narration.
Title from title frames.
Contents: Mitochondrial fatty acid oxidation (FAO) defects -- FAO biochemical pathways -- FAO defects -- Diagnosis of FAO defects -- Newborn screening for FAO defects, especially medium-chain acyl-CoA dehydrogenase (MCAD) deficiency -- Diagnostic genetic analysis for MCAD gene variations -- Expression studies of variant MCAD proteins in E.coli -- Protein misfolding as a pathogenic mechanism in MCAD deficiency.
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Mode of access: World Wide Web.