Gregersen, Niels.
Mitochondrial fatty acid oxidation deficiencies [electronic resource] / Niels Gregersen. - London : Henry Stewart Talks, 2007. - 1 online resource (1 streaming video file (29 min.) : color, sound). - Protein epidemiology : understanding human diseases at the level of protein structure and function, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology. .
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
1235 Henry Stewart Talks
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 Folding.
Mitochondrial fatty acid oxidation deficiencies [electronic resource] / Niels Gregersen. - London : Henry Stewart Talks, 2007. - 1 online resource (1 streaming video file (29 min.) : color, sound). - Protein epidemiology : understanding human diseases at the level of protein structure and function, 2056-452X . - Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology. .
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.
Access restricted to subscribers.
Mode of access: World Wide Web.
1235 Henry Stewart Talks
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 Folding.