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Navigable Slide Index

1. Introduction
2. Historical overview
3. Biochemistry of the ETF/ ETF-QO side chain
4. Biogenesis of ETF
5. Biogenesis of ETF-QO
6. Biochemical phenotype (1)
7. Biochemical phenotype (2)
8. Clinical phenotype
9. The enzymatic defect (ETF/ ETF-QO) (1)
10. Enzymatic defect (FAD-related) (1)
11. Enzymatic defect (FAD-related) (2)
12. The enzymatic defect (ETF/ ETF-QO) (2)
13. The genetic defect
14. Effect of mutations
15. Effect of mutations: splice mutations
16. Effect of mutations: PTC mutations
17. Effect of mutations:missense mutations
18. A temperature-sensitive missense mutation (1)
19. A temperature-sensitive missense mutation (2)
20. 3D localization of ETF missense mutations
21. Genotype-phenotype relation (1)
22. Genotype-phenotype relation (2)
23. 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

Series:

• Protein Epidemiology

Categories:

• Biochemistry
• Cell Biology
• Clinical Practice

Therapeutic Areas:

• Cardiovascular & Metabolic

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 April 24, 2024, from https://hstalks.com/bs/48/.
Export Citation (RIS)

Publication History

• Published on October 1, 2007
• Archived on August 13, 2020

Financial Disclosures

• Dr. Rikke Olsen has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.