Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme

• Main Authors: Latifa Chkioua (Author), Yessine Amri (Author), Chayma Saheli (Author), Ferdawes Fenni (Author), Hela Boudabous (Author), Hadhami Ben Turkia (Author), Taieb Messaoud (Author), Neji Tebib (Author), Sandrine Laradi (Author)
• Format: Book
• Published: BMC, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-l-fucosidase (FUCA1) activity, leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. Clinical features include angiokeratoma, progressive psychom...