Prediction of disease severity in multiple acyl‐CoA dehydrogenase deficiency: A retrospective and laboratory cohort study
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DOI: 10.1002/jimd.12147
Abstract: Multiple acyl‐CoA dehydrogenase deficiency (MADD) is an ultra‐rare inborn error of mitochondrial fatty acid oxidation (FAO) and amino acid metabolism. Individual phenotypes and treatment response can vary markedly. We aimed to identify markers that predict… read more here.
Keywords: madd ds3; disease severity; multiple acyl; acyl coa ... See more keywords