Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference5 articles.
1. Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) gene;Goodman;Mol Genet Metab,2002
2. Expanded newborn screening for inborn errors of metabolism by electrospray ionization–tandem mass spectrometry: results, outcome, and implications;Schulze;Pediatrics,2003
3. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency;Olsen;Brain,2007
4. Mitochondrial fatty acid oxidation defects—remaining challenges;Gregersen;J Inherit Metab Dis,2008
5. The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene;Gempel;Brain,2007
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2. Cardiogenic shock and asphyxial cardiac arrest due to glutaric aciduria type II;World Journal of Emergency Medicine;2023
3. Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review;Frontiers in Pediatrics;2021-05-10
4. ETF dehydrogenase advances in molecular genetics and impact on treatment;Critical Reviews in Biochemistry and Molecular Biology;2021-04-07
5. CHIP control degradation of mutant ETF : QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency;Journal of Inherited Metabolic Disease;2021-01-25
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