Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy

GNE myopathy is an adult-onset progressive myopathy, resulting from mutations in GNE, the key enzyme of sialic acid synthesis. The pathomechanism of GNE myopathy likely involves aberrant sialylation, since administration of sialic acid itself, or its precursor, N-acetylmannosamine (ManNAc), rescued...

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Main Authors: Leoyklang, Petcharat, Malicdan, May Christine, Yardeni, Tal, Celeste, Frank, Ciccone, Carla, Li, Xueli, Jiang, Rong, Gahl, William A., Carrillo-Carrasco, Nuria, He, Miao, Huizing, Marjan
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4160177/
https://ncbi.nlm.nih.gov/pubmed/25123033
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2217/bmm.14.2
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