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
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Sugihara K et al.
Pediatric Research, 2022
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Ohashi Y et al.
Neurology, 2004
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