Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

  title={Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.},
  author={Bwee Tien Poll-The and Jutta G{\"a}rtner},
  journal={Biochimica et biophysica acta},
  volume={1822 9},
Peroxisomal disorders are an important group of neurometabolic diseases. The clinical presentation is varied in terms of age of onset, severity, and different neurological symptoms. The clinical course spans from death in infancy, rapid functional decline, slow decline on long-term followup, to apparent stable course. Leukoencephalopathy and developmental anomalies are characteristic findings on cerebral MR imaging. From a diagnostic point of view the disorders can be clinically subdivided into… CONTINUE READING
28 Citations
53 References
Similar Papers


Publications citing this paper.
Showing 1-10 of 28 extracted citations


Publications referenced by this paper.
Showing 1-10 of 53 references


  • E. M. Jenkinson, J. Clayton-Smith, +9 authors J.R.E. Davis
  • Trump0, W.G. Newman, Perrault syndrome: further…
  • 2011

Mutations in the gene encoding peroxisomal sterol carrier protein X ( SCPx ) cause leukoencephalopathy with dystonia and motor neuropathy

  • P. Kostopoulos S. Ferdinandusse, S. Denis, +7 authors M. Marziniak
  • Am . J . Hum . Genet .
  • 2011


  • C. Sevin
  • Ferdinandusse,H.R.Waterham,R.J.Wanders, P…
  • 2011
1 Excerpt

Autosomal recessive cerebellar ataxia caused bymutations in the PEX 2 gene

  • S. Ferdinandusse, H. R. Waterham, R. J. Wanders, P. Aubourg
  • Orphanet J . Rare Dis .
  • 2010


  • L. Régal, M. S. Ebberink, +4 authors M. Schrooten
  • Van Coster, H.R.Waterham, Mutations in PEX10 are…
  • 2010
1 Excerpt

Similar Papers

Loading similar papers…