α-(1-2,3,4,6)-L-Fucosidase from Homo sapiens, Recombinant

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Features Specifications: α-(1-2,3,4,6)-L-Fucosidase from Homo sapiens, Recombinant

 

Alpha-Fucosidase is an enzyme that breaks down fucose. Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Different phenotypes include clinical features such as neurologic deterioration, growth retardation, visceromegaly, and seizures in a severe early form; coarse facial features, angiokeratoma corporis diffusum, spasticity and delayed psychomotor development in a longer surviving form; and an unusual spondylometaphyseoepiphyseal dysplasia in yet another form.



α-(1-2,3,4,6)-L-Fucosidase from Homo sapiens, Recombinant

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