Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.

Orphanet J Rare Dis · 2017 · PMC5740567 · PMID 29268767

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slightly non-significantno p-value reported

Homozygous VLCADD variants showed slightly non-significant differences of relevant acylcarnitines in comparison to compound heterozygous variants (Fig. 5 , due to small sample size no statistical analysis was performed).

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