Siblings with a progressive neurodegenerative condition associated with basal ganglia calcifications, retinitis pigmentosa and decreased levels of fucosidase--a new presentation?
作者信息
Portoian-Shuhaiber S, Gumaa K, Hamalawi H, Malla O K, Teebi A S, Al-Rashied A
机构信息
Department of Paediatrics, Al-Sabah Hospital, Kuwait.