TY  - JOUR
AU  - Phillips, Dawn
AU  - Hennermann, Julia B
AU  - Tylki-Szymanska, Anna
AU  - Borgwardt, Line
AU  - Gil-Campos, Mercedes
AU  - Guffon, Nathalie
AU  - Amraoui, Yasmina
AU  - Geraci, Silvia
AU  - Ardigò, Diego
AU  - Cattaneo, Federica
AU  - Lund, Allan M
PY  - 2020
DO  - 10.1016/j.ymgmr.2020.100586
SN  - 2214-4269
UR  - https://hdl.handle.net/10668/27106
T2  - Molecular genetics and metabolism reports
AB  - Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder resulting from deficient lysosomal alpha-mannosidase activity. Clinical manifestations include progressive balance disorders, immune deficiency, skeletal abnormalities and...
LA  - en
TI  - Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.
TY  - research article
VL  - 23
ER  -