Article ID Journal Published Year Pages File Type
8343127 Molecular Genetics and Metabolism 2018 6 Pages PDF
Abstract
Our case highlights the need to re-interrogate bioinformatics resources as they are constantly evolving, and is reminiscent of the short-chain acyl-CoA dehydrogenase deficiency (SCADD) story, where a functional defect in fatty acid oxidation has doubtful clinical ramifications.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
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