Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency.

@article{Gropman2010DiffusionTI,
  title={Diffusion tensor imaging detects areas of abnormal white matter microstructure in patients with partial ornithine transcarbamylase deficiency.},
  author={Andrea Gropman and Beate Gertz and Kyle F. Shattuck and Ilana Kahn and Ryan Geoffrey Nathaniel Seltzer and Leonid Krivitsky and Jake Van Meter},
  journal={AJNR. American journal of neuroradiology},
  year={2010},
  volume={31 9},
  pages={
          1719-23
        }
}
BACKGROUND AND PURPOSE OTCD, an X-linked disorder, is the most common of the UCDs. Neonatal onset is associated with uniformly poor outcome. Males with late-onset OTCD show deficits in executive function, motor planning, and working memory. A broad phenotype is observed in heterozygous females. A specific neurobehavioral phenotype with white matter dysfunction and impaired attention and working memory has been described. The extent to which the deficits involve specific pathways in the brain is… CONTINUE READING

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Clinical practice

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