Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants-Reference-Cited by-同舟云学术

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants

Published:2017-08 Issue: Volume:471 Page:101-106
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Dessein Anne-Frédérique,Fontaine Monique,Joncquel-Chevalier Curt Marie,Briand Gilbert,Sechter Claire,Mention-Mulliez Karine,Dobbelaere Dries,Douillard Claire,Lacour Arnaud,Redonnet-Vernhet Isabelle,Lamireau Delphine,Barth Magalie,Minot-Myhié Marie-Christine,Kuster Alice,de Lonlay Pascale,Gregersen Niels,Acquaviva Cécile,Vianey-Saban Christine,Vamecq Joseph

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference15 articles.

1. Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency;van Maldegem;J. Inherit. Metab. Dis.,2010

2. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency;van Maldegem;JAMA,2006

3. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level;Pedersen;Hum. Genet.,2008

4. Short-chain acyl-CoA dehydrogenase deficiency;Wolfe,2011

5. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots;van Maldegem;J. Inherit. Metab. Dis.,2005

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