Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Monica Zilmer, Andrew C Edmondson, Sumeet A Khetarpal, Viola Alesi, Maha S Zaki, Kevin Rostasy, Camilla G Madsen, Francesca R Lepri, Lorenzo Sinibaldi, Raffaella Cusmai, Antonio Novelli, Mahmoud Y Issa, Christina D Fenger, Rami Abou Jamra, Heiko Reutter, Silvana Briuglia, Emanuele Agolini, Lars Hansen, Ulla E Petäjä-Repo, John HintzeKimiyo M Raymond, Kristen Liedtke, Valentina Stanley, Damir Musaev, Joseph G Gleeson, Cecilia Vitali, W Timothy O'Brien, Elena Gardella, Guido Rubboli, Daniel J Rader, Katrine T Schjoldager, Rikke S Møller

45 Citationer (Scopus)

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Medicin og biovidenskab