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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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Phillips, Dawn, Hennermann, Julia B., Tylki-Szymanska, Anna, Borgwardt, Line, Gil-Campos, Mercedes, Guffon, Nathalie, Amraoui, Yasmina, Geraci, Silvia, Ardigò, Diego, Cattaneo, Federica, Lund, Allan M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7149402/
https://ncbi.nlm.nih.gov/pubmed/32292699
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100586
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