MAN1B1 Deficiency: An Unexpected CDG-II

Por Rymen, Daisy, Peanne, Romain, Millón, María B., Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G., Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert
Publicado em 2013

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Por Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Publicado no J Exp Med (2017)