The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

@article{Duffner2009TheLO,
  title={The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York},
  author={Patricia K. Duffner and Verne S. Caviness and Richard W. Erbe and Marc C. Patterson and Kirk R Schultz and David A. Wenger and Chester B. Whitley},
  journal={Genetics in Medicine},
  year={2009},
  volume={11},
  pages={450-454}
}
Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive disorder of white matter resulting from deficiency of galactosylceramide beta-galactosidase (GALC) and the consequent accumulation of galactosylceramide and psychosine. Although most patients present within the first 6 months of life, i.e., the early infantile or “classic” phenotype, others present later in life including in adolescence and adulthood. The only available treatment for infants with early infantile Krabbe… CONTINUE READING
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