Dictionary
Words, grammatical forms and meanings linked to the ontology.
octanoylcarnitine en · NOUN
Meanings
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(uncountable) The N-octanoyl derivative of carnitine
In a study with 34 MCAD deficient individuals evaluating the correlation between genotype and biochemical phenotype, patients homozygous for c.985A > G had the highest levels of neonatal octanoylcarnitine followed by compound heterozygotes of c.985A > G and other mutations.
2015 July 30, Sarah C. Grünert et al., “Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening”, in BMC Medical Genetics, volume 16, →DOI: