Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis
Objectives: 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 cognitive deficits beginning in early ch...
Main Authors: | Dawn Phillips, Julia B. Hennermann, Anna Tylki-Szymanska, Line Borgwardt, Mercedes Gil-Campos, Nathalie Guffon, Yasmina Amraoui, Silvia Geraci, Diego Ardigò, Federica Cattaneo, Allan M. Lund |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2020-06-01
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Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S221442692030032X |
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