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

Por 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
Publicado em 2014

Mutation Update for GNE Gene Variants Associated with GNE Myopathy

Por Celeste, Frank V., Vilboux, Thierry, Ciccone, Carla, de Dios, John Karl, Malicdan, May Christine V., Leoyklang, Petcharat, McKew, John C., Gahl, William A., Carrillo-Carrasco, Nuria, Huizing, Marjan
Publicado em 2014

Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy

Por Xu, Xin, Wang, Amy Q., Latham, Lea L., Celeste, Frank, Ciccone, Carla, Malicdan, May Christine, Goldspiel, Barry, Terse, Pramod, Cradock, James, Yang, Nora, Yorke, Selwyn, McKew, John C., Gahl, William A., Huizing, Marjan, Carrillo, Nuria
Publicado no Mol Genet Metab (2017)