Cerebellar Alterations and Gait Defects as Therapeutic Outcome Measures for Enzyme Replacement Therapy in α-Mannosidosis

α-Mannosidosis is a rare lysosomal storage disease with accumulation of undegraded mannosyl-linked oligosaccharides in cells throughout the body, most notably in the CNS. This leads to a broad spectrum of neurological manifestations, including progressive intellectual impairment, disturbed motor fun...

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Main Authors: Damme, Markus, Stroobants, Stijn, Walkley, Steven U., Lüllmann-Rauch, Renate, D`Hooge, Rudi, Fogh, Jens, Saftig, Paul, Lübke, Torben, Blanz, Judith
Format: Artigo
Sprog:Inglês
Udgivet: 2011
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3077051/
https://ncbi.nlm.nih.gov/pubmed/21157375
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e31820428fa
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