Spectrum of mutations in fucosidosis

  title={Spectrum of mutations in fucosidosis},
  author={Patrick J. Willems and Hee-Chan Seo and Paul J Coucke and Rossana Tonlorenzi and John S. O'brien},
  journal={European Journal of Human Genetics},
Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient α-l-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Fucosidosis is extremely rare with less than 100 patients reported worldwide, although the disease occurs at a higher rate in Italy, in the Hispanic-American population of New Mexico and Colorado, and in Cuba. We… CONTINUE READING
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