Kaitlyn Scola
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View article: O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency
O17: Characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency Open
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid metabolism resulting from biallelic mutations in the ACADVL gene. Patients with VLCADD present with biochemical dysfunction due…