Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Øivind; Lund, Allan Meldgaard (Journal article; Tidsskriftartikkel; Peer reviewed, 2015-06-06)
Background: Alpha-mannosidosis is caused by mutations in MAN2B1, leading to loss of lysosomal alpha-mannosidase
activity. Symptoms include intellectual disabilities, hearing impairment, motor function disturbances, facial coarsening
and musculoskeletal abnormalities.
<p>Methods: To study the genotype-phenotype relationship for alpha-mannosidosis 66 patients were included. Based on
the predicted ...