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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 
 
 

L-alanine supplementation in late infantile glycogen storage disease type II.

We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely. L-alanine may be a valuable supplement for infants with glycogen storage disease type II.[1]

References

  1. L-alanine supplementation in late infantile glycogen storage disease type II. Bodamer, O.A., Haas, D., Hermans, M.M., Reuser, A.J., Hoffmann, G.F. Pediatric neurology. (2002) [Pubmed]
 
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