Abstract
Fucosidosis is an inherited metabolic disorder in which deficiency of a-1-fucosidase activity results in accumulation of fucosyl compounds in lysosomes (6, 7, 24). Clinical manifestations reported include progressive motor and mental deterioration, coarseness of facial features, cardiomegaly, hepatomegaly, skeletal abnormalities and short stature (1,5,6,8,13). Initially many of the patients exhibit hypotonia, but progressive spasticity develops with time.
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Landing, B.H. et al. (1976). Fucosidosis: Clinical, Pathologic, and Biochemical Studies of Five Patients. 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_10
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DOI: https://doi.org/10.1007/978-1-4684-7735-1_10
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