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

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 ret...

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Detalles Bibliográficos
Autores principales: Chkioua, Latifa, Amri, Yessine, Saheli, Chayma, Fenni, Ferdawes, Boudabous, Hela, Ben Turkia, Hadhami, Messaoud, Taieb, Tebib, Neji, Laradi, Sandrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383439/
https://www.ncbi.nlm.nih.gov/pubmed/34425818
http://dx.doi.org/10.1186/s12920-021-01061-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8383439/
https://www.ncbi.nlm.nih.gov/pubmed/34425818
http://dx.doi.org/10.1186/s12920-021-01061-3

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