Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.

@article{Brown2014NeurodevelopmentalPO,
  title={Neurodevelopmental profiles of children with very long chain acyl-CoA dehydrogenase deficiency diagnosed by newborn screening.},
  author={Amy B Brown and Louise M Crowe and Brage S Andresen and Vicki Anderson and Avihu Boneh},
  journal={Molecular genetics and metabolism},
  year={2014},
  volume={113 4},
  pages={278-82}
}
BACKGROUND Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a disorder of fatty acid oxidation with an estimated incidence of between 1:31,500 and 1:125,000. There is limited information regarding neurodevelopmental outcomes, probably because the disorder is perceived as affecting the skeletal and heart muscles, and many children are deemed asymptomatic. The aim of this study was to utilise a comprehensive neuropsychological assessment battery that assessed IQ, language, attention… CONTINUE READING
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