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  • Title: Absence of alpha-fucosidase activity in two sisters showing a different phenotype.
    Author: Christomanou H, Beyer D.
    Journal: Eur J Pediatr; 1983 Mar; 140(1):27-9. PubMed ID: 6873107.
    Abstract:
    Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete alpha-L-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of alpha-L-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
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