Associated Papers
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G et al.
International Journal of Neonatal Screening, 2024
38390979 (PubMed )
Supplement: IJNS-10-00015-s001.zip › TableS1.pdf
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Shiraishi H et al.
Brain & Development, 2021
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
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2018
A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.
Yamamoto F et al.
Journal of the Neurological Sciences, 2016
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