Puente-Ruiz, Nuria; Ellis, Ian; Bregu, Marsel; Chen, Cliff; Church, Heather J.; Tylee, Karen L.; Glaston, Shalini; Hackett, Richard; Oldham, Andrew; Virk, Surinder; Hendriksz, Christian J.; Morris, Andrew A.M.; Jones, Simon A.; Stepien, Karolina M.
(Elsevier, 2023-12)
Fucosidosis (OMIN# 230000) is a rare lysosomal storage disorder (LSDs) caused by mutations in the FUCA1
gene, leading to alpha-L-fucosidase deficiency; it is inherited as an autosomal recessive trait. Fucosidosis represents
a ...