Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations - Puente-Ruiz, Nuria; Ellis, Ian; Bregu, Marsel; Chen, Cliff; Church, Heather J.; Tylee, Karen L.; Gladston, Shalini; Hackett, Richard; Oldham, Andrew; Virk, Surinder; Hendriksz, Christian; Morris, Andrew A.M.; et al. (Molecular genetics and metabolism reports, 2023)
Keywords: Angiokeratomas; Case Report; Fucosidosis; Learning disability; Long-term outcomes; Natural history; Fucosidosis; Long-term outcomes; Angiokeratomas; Learning disability; Natural history