Article
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Molecular genetics and metabolism - 1 Nov 2015
Miller Marcus J, Burrage Lindsay C, Gibson James B, Strenk Meghan E, Lose Edward J, Bick David P, Elsea Sarah H, Sutton V Reid, Sun Qin, Graham Brett H, Craigen William J, Zhang Victor Wei, Wong Lee-Jun C
Abstract excerpt
Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS). Follow-up molecular analyses are often required to clarify VLCADD-suggestive NBS results, but to date the outcome of these studies are not well described for the general screen-positive population. In the following study, we report the molecular findings...
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