Medium-chain Acyl-CoA dehydrogenase deficiency: a characterization of the most common variant and current and future therapeutics
Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) is the most common inborn error of metabolism affecting the fatty acid oxidation pathway. The deficiency is caused by a defect in the medium-chain acyl-CoA dehydrogenase enzyme which catalyzes the first step in the oxidation of medium-chain fatt...
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| Language: | en_US |
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2018
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| Online Access: | https://hdl.handle.net/2144/26514 |