Early Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
de la Peña MJ, López-Martín S, Fernández-Mayoralas DM, Fernández-Perrone AL, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Álvarez S, Albert J, Fernández-Jaén A.
de la Peña MJ, et al. Among authors: alvarez s.
Mol Genet Genomic Med. 2025 Feb;13(2):e70070. doi: 10.1002/mgg3.70070.
Mol Genet Genomic Med. 2025.
PMID: 39865383
Free PMC article.