Fucosidosis revisited: a review of 77 patients.

  title={Fucosidosis revisited: a review of 77 patients.},
  author={Patrick J. Willems and Richard A. Gatti and John K. Darby and Giovanni Romeo and Philippe Durand and J E Dumon and John S. O'brien},
  journal={American journal of medical genetics},
  volume={38 1},
Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy-seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to define the natural history of fucosidosis. The clinical picture of fucosidosis… CONTINUE READING


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