Overview

fucosidosis


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A rare autosomal recessive disorder characterized by progressive psychomotor and growth retardation; urinary excretion and lysosomal accumulation of glycolipids, glycopeptides, and oligosaccharides that contain terminal fucose moieties; and α‐fucosidase deficiency. Mutations in the gene at 1p24 are responsible.

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Subjects: Chemistry.


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