Harmatz, Paul; Cattaneo, Federica; Ardigo, Diego; Geraci, Silvia; Hennermann, Julia B.; Guffon, Nathalie; Lund, Allan; Hendriksz, Christian J.; Borgwardt, Line
(Elsevier, 2018-06)
Alpha-mannosidosis is an ultra-rare monogenic disorder resulting from a deficiency in the lysosomal enzyme
alpha-mannosidase, with a prevalence estimated to be as low as 1:1,000,000 live births. The resulting accumulation
of ...