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Absence of α-fucosidase activity in two sisters showing a different phenotype (1983)

Christomanou, H. ; Beyer, D.

Springer

European journal of pediatrics 140 (1983), S. 27-29

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ISSN: 1432-1076

Keywords: Fucosidosis ; α-fucosidase ; Oligosaccharides ; Mental deterioration ; Clinical heterogeneity

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete α-l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of α-l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00661900

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