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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: 2014
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Article
Online-ссылка: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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