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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Genet Metab Rep
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2020
Témata:
Research Paper
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky