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New Treatments for Denervating DiseasesChildren's Hospital of Philadelphia, Philadelphia, PA, pleasure{at}email.chop.edu
There has been considerable recent progress in understanding mechanisms by which gene mutations cause degeneration of motoneurons and peripheral nerves. Novel therapies inspired by these insights have begun to yield promising results in mouse models of these genetic diseases. Among these have been the use of small molecules or proteins to suppress gain-of-function mutations (eg, ascorbic acid for Charcot-Marie-Tooth disease type 1A) or to restore enzyme activities that are deficient because of loss-of-function mutations (eg, treatment of Fabry's disease with recombinant
Journal of Child Neurology, Vol. 20, No. 3,
258-262 (2005) This article has been cited by other articles:
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-galactosidase or with low-molecular-weight 