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Article

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

BMC medical genomics - 23 Aug 2021

Chkioua Latifa, Amri Yessine, Chaima Sahli, Fenni Ferdawes, Boudabous Hela, Ben Turkia Hadhami, Messaoud Taieb, Tebib Neji, Laradi Sandrine

Abstract excerpt

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 psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. METHODS: All exons and flanking intron...

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Identifiers

PMID: 34425818
DOI: 10.1186/s12920-021-01061-3
PMCID: PMC8383439

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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