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A significant proportion of patients affected with fucosidosis have Italian ancestors. We assayed for alpha-fucosidase activity purified mononuclear cells and/or leukocytes obtained from 64 members of two large pedigrees from Calabria, in which seven children had been diagnosed as affected with fucosidosis. Of these 64 individuals, 22 were diagnosed as carriers, while the values for the remainder were within normal limits, indicating a clear bimodal distribution among individuals at risk.
View Article and Find Full Text PDFThe clinical and biochemical data of the two original cases of fucosidosis type I and of three other type II are reported. Of less than forty patients affected with fucosidosis, described in the literature, seven belong to two pedigree originating from a small, isolated area of the Southern Italian region of Calabria. All the affected children were born from first cousin marriages.
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