Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case - de la Pena, Mar Jimenez; Lopez-Martin, Sara; Fernandez-Mayoralas, Daniel Martin; Fernandez-Perrone, Ana Laura; de Domingo, Ana Jimenez; Tirado, Pilar; Calleja-Perez, Beatriz; Alvarez, Sara; Albert, Jacobo; Fernandez-Jaen, Alberto (Molecular Genetics & Genomic Medicine, 2025)