Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.

@article{Miller2015RecurrentAM,
  title={Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.},
  author={Marcus J. Miller and Lindsay C Burrage and James Bryan Gibson and Meghan E Strenk and Edward J Lose and David Bick and Sarah H Elsea and Vernon Reid Sutton and Qin Juan Sun and Brett H Graham and William J. Craigen and Victor Wei Zhang and L. J. C. Wong},
  journal={Molecular genetics and metabolism},
  year={2015},
  volume={116 3},
  pages={139-45}
}
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… CONTINUE READING