MPG.eBooks - Table of Contents: Mitochondrial fatty acid oxidation deficiencies

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Bibliographic Details
Main Author:	Gregersen, Niels
Format:	eBook
Language:	English
Published:	London Henry Stewart Talks 2007, 2007
Series:	Protein epidemiology : understanding human diseases at the level of protein structure and function
Subjects:	Genetic Testing Oxidation-reduction Metabolism, Inborn Errors Of Lipid Metabolism, Inborn Errors Proteins / Metabolism Acyl-coa Dehydrogenases / Deficiency Mitochondria Fatty Acids / Metabolism Medium Chain Acyl Coa Dehydrogenase Deficiency Neonatal Screening Mitochondria / Metabolism Fatty Acids / Oxidation Protein Folding
Online Access:	https://hstalks.com/bs/p/33 https://hstalks.com/bs/46
Collection:	Henry Stewart Talks - Collection details see MPG.ReNa

Table of 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