TY  - ADVS
AU  - Gregersen,Niels
TI  - Mitochondrial fatty acid oxidation deficiencies
T2  - Protein epidemiology : understanding human diseases at the level of protein structure and function,
PY  - 2007///
CY  - London
PB  - Henry Stewart Talks
KW  - Fatty acids
KW  - Metabolism
KW  - Oxidation
KW  - Metabolism, Inborn errors of
KW  - Mitochondria
KW  - Proteins
KW  - Acyl-CoA Dehydrogenases
KW  - deficiency
KW  - Fatty Acids
KW  - metabolism
KW  - Genetic Testing
KW  - Lipid Metabolism, Inborn Errors
KW  - Medium chain acyl CoA dehydrogenase deficiency
KW  - Neonatal Screening
KW  - Oxidation-Reduction
KW  - Protein Folding
N1  - 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
UR  - https://hstalks.com/bs/46/
UR  - https://hstalks.com/bs/p/33/
ER  -