Biochemical profiling to predict disease severity in metachromatic leukodystrophy.

@article{Tan2010BiochemicalPT,
  title={Biochemical profiling to predict disease severity in metachromatic leukodystrophy.},
  author={Mohd A F Tan and Maria Fuller and Z. A. M. H. Zabidi-Hussin and John J. Hopwood and Peter J. Meikle},
  journal={Molecular genetics and metabolism},
  year={2010},
  volume={99 2},
  pages={142-8}
}
Metachromatic leukodystrophy is a neurodegenerative disease that is characterized by a deficiency of arylsulfatase A, resulting in the accumulation of sulfatide and other lipids in the lysosomal network of affected cells. Accumulation of sulfatide in the nervous system leads to severe impairment of neurological function with a fatal outcome. Prognosis is often poor unless treatment is carried out before the onset of clinical symptoms. Pre-symptomatic detection of affected individuals may be… CONTINUE READING
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