Title : Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency.

Pub. Date : 2021 Mar

PMID : 33234382






1 Functional Relationships(s)
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1 Our findings suggest that the elevation of individual plasma very long chain fatty acids concentration, genetic analysis including whole exome analysis, and biochemical studies on the patient"s fibroblasts should be considered for the correct diagnosis of ACOX1 deficiency. Fatty Acids acyl-CoA oxidase 1 Homo sapiens