International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management
Altassan, Ruqaiah, Radenkovic, Silvia, Edmondson, Andrew C., Barone, Rita, Brasil, Sandra, Cechova, Anna, Coman, David, Donoghue, Sarah, Falkenstein, Kristina, Ferreira, Vanessa, Ferreira, Carlos, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Grunewald, Stephanie, Honzik, Tomas, Jaeken, Jaak, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Pascoal, Carlota, Quelhas, Dulce, Raymond, Kimiyo M., Rymen, Daisy, Seroczynska, Malgorzata, Serrano, Mercedes, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Frederic, Vals, Mari‐Anne, Videira, Paula, Voermans, Nicol, Witters, Peter, Morava, Eva
Published in Journal of inherited metabolic disease (01.01.2021)
Published in Journal of inherited metabolic disease (01.01.2021)
Get full text
Journal Article
Congenital disorders of glycosylation with defective fucosylation
Hüllen, Andreas, Falkenstein, Kristina, Weigel, Corina, Huidekoper, Hidde, Naumann‐Bartsch, Nora, Spenger, Johannes, Feichtinger, René G., Schaefers, Jacqueline, Frenz, Stephanie, Kotlarz, Daniel, Momen, Tooba, Khoshnevisan, Razieh, Riedhammer, Korbinian M., Santer, René, Herget, Theresia, Rennings, Alexander, Lefeber, Dirk J., Mayr, Johannes A., Thiel, Christian, Wortmann, Saskia B.
Published in Journal of inherited metabolic disease (01.11.2021)
Published in Journal of inherited metabolic disease (01.11.2021)
Get full text
Journal Article