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Printable Handouts
Navigable Slide Index
- Introduction
- Historical overview
- Biochemistry of the ETF/ ETF-QO side chain
- Biogenesis of ETF
- Biogenesis of ETF-QO
- Biochemical phenotype (1)
- Biochemical phenotype (2)
- Clinical phenotype
- The enzymatic defect (ETF/ ETF-QO) (1)
- Enzymatic defect (FAD-related) (1)
- Enzymatic defect (FAD-related) (2)
- The enzymatic defect (ETF/ ETF-QO) (2)
- The genetic defect
- Effect of mutations
- Effect of mutations: splice mutations
- Effect of mutations: PTC mutations
- Effect of mutations:missense mutations
- A temperature-sensitive missense mutation (1)
- A temperature-sensitive missense mutation (2)
- 3D localization of ETF missense mutations
- Genotype-phenotype relation (1)
- Genotype-phenotype relation (2)
- Diagnosis
Topics Covered
- Multiple acyl-CoA dehydrogenation deficiency (MADD)
- Glutaric aciduria type II (GAII)
- Electron transfer flavoprotein (ETF)
- ETF: ubiquinone oxidoreductase (ETF:QO)
- Biogenesis and function of electron transfer flavoproteins
- Genotype-phenotype relations
- Molecular genetic pathogenesis
- Treatment and diagnosis
Links
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Talk Citation
Olsen, R. (2007, October 1). Multiple acyl-CoA dehydrogenation deficiency: defects of electron transfer flavoproteins [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 11, 2024, from https://doi.org/10.69645/LWGH5509.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Rikke Olsen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Multiple acyl-CoA dehydrogenation deficiency: defects of electron transfer flavoproteins
A selection of talks on Cardiovascular & Metabolic
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