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
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M et al.
Molecular Genetics and Metabolism, 2023
Efficacy of bezafibrate for preventing myopathic attacks in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Shiraishi H et al.
Brain & Development, 2021
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