Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:Molecular Genetics and Metabolism Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S221442692030032X

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http://www.sciencedirect.com/science/article/pii/S221442692030032X

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