Article
Phenotypic spectrum of fucosidosis in Tunisia.
Journal of inherited metabolic disease - 1 Dec 2008
Ben Turkia H, Tebib N, Azzouz H, Abdelmoula M S, Bouguila J, Sanhaji H, Miladi N, Maire I, Caillaud C, Kaabachi N, Ben Dridi M F
Abstract excerpt
Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. This study contained the largest ever Tunisian survey of fucosidosis patients, diagnosed during the period 1987-2007. The clinical pictures and outcomes of these patients are compared...
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