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Mitochondrial fatty acid oxidation deficiencies / Niels Gregersen.
- Format:
- Video
- Author/Creator:
- Gregersen, Niels, Speaker.
- Series:
- Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology.
- Protein epidemiology : understanding human diseases at the level of protein structure and function, 2056-452X
- Language:
- English
- Subjects (All):
- Fatty acids--Metabolism.
- Fatty acids.
- Fatty acids--Oxidation.
- Metabolism, Inborn errors of.
- Mitochondria.
- Proteins--Metabolism.
- Proteins.
- 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.
- Medical Subjects:
- 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.
- Genre:
- Video recordings.
- Physical Description:
- 1 online resource (1 streaming video file (29 min.)) : color, sound.
- polychrome
- Place of Publication:
- London : Henry Stewart Talks, 2007.
- System Details:
- Mode of access: World Wide Web.
- video file
- Contents:
- 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.
- Notes:
- Animated audio-visual presentation with synchronized narration.
- Title from title frames.
- Publisher Number:
- 1235 Henry Stewart Talks
- Access Restriction:
- Restricted for use by site license.
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