A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.

@article{Parikh2015ACA,
  title={A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.},
  author={S. Parikh and G. Bernard and R. Leventer and M. S. van der Knaap and J. V. Van Hove and A. Pizzino and N. McNeill and G. Helman and C. Simons and Johanna L Schmidt and W. Rizzo and M. Patterson and R. Taft and A. Vanderver},
  journal={Molecular genetics and metabolism},
  year={2015},
  volume={114 4},
  pages={
          501-515
        }
}
Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS). Magnetic resonance (MR) imaging (MRI) has dramatically improved and systematized the diagnosis of LDs and gLEs, and in combination with specific clinical features, such as Addison's disease in Adrenoleukodystrophy or hypodontia in Pol-III related or 4H leukodystrophy, can often resolve a case with a minimum of testing. The diagnostic odyssey… Expand
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  • D. Tonduti, C. Aiello, +15 authors E. Bertini
  • Medicine
  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2016
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