Associated Papers
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2019
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
Bastin J et al.
Human Molecular Genetics, 2011
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.
Djouadi F et al.
Journal of Inherited Metabolic Disease, 2008
Identification and characterization of temperature-sensitive mild mutations in three Japanese patients with nonsevere forms of very-long-chain acyl-CoA dehydrogenase deficiency.
Takusa Y et al.
Molecular Genetics and Metabolism, 2002
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