Abstract
Fucosidosis is a mucolipidosis involving the accumulation in tissues of fucose-containing sphingolipids, glycoproteins and mucopolysaccharides (10,16). The disease is transmitted as an autosomal recessive trait and the basic metabolic defect has been found to be deficiency of α-L-fucosidase (24). The enzymatic defect has been reported in various organs (25,16,14), serum (4,27), cultured skin fibroblasts (16,28) and peripheral blood leukocytes (16,7,4). Genetic heterogeneity of the disease has been identified and we have designated the two distinct forms as types 1 and 2 (13).
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Hirschhorn, K., Beratis, N.G., Turner, B.M. (1976). Alpha-L-Fucosidase in Normal and Deficient Individuals. In: Volk, B.W., Schneck, L. (eds) Current Trends in Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 68. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7735-1_13
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DOI: https://doi.org/10.1007/978-1-4684-7735-1_13
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