Mitochondrial fatty acid oxidation deficiencies

Mitochondrial fatty acid oxidation deficiencies

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Bibliographic Details
Other Authors: Gregersen, Niels (Speaker)
Format: Electronic Video
Language:English
Published: London : Henry Stewart Talks, 2007.
Series:Henry Stewart talks. Biomedical & life sciences collection. Protein epidemiology.
Subjects:
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.
Online Access:https://hstalks.com/bs/46/
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Table of 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.

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