Data | Título | Autor(es) | Tipo | Acesso |
19-Out-2022 | A Participatory Framework for Plain Language Clinical Management Guideline Development | Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Inês; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A.; dos Reis Ferreira, Vanessa | article |  |
1-Jan-2019 | International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up | Altassan, Ruqaiah; Péanne, Romain; Jaeken, Jaak; Barone, Rita; Bidet, Muad; Borgel, Delphine; Brasil, Sandra; Cassiman, David; Cechova, Anna; Coman, David; Corral, Javier; Correia, Joana; Morena-Barrio, María Eugenia de la; de Lonlay, Pascale; Reis, Vanessa dos; Ferreira, Carlos R.; Fiumara, Agata; Francisco, Rita; Freeze, Hudson; Funke, Simone; Gardeitchik, Thatjana; Gert, Matthijs; Girad, Muriel; Giros, Marisa; Grünewald, Stephanie; Hernández-Caselles, Trinidad; Honzik, Tomas; Hutter, Marlen; Krasnewich, Donna; Lam, Christina; Lee, Joy; Lefeber, Dirk; Marques-da-Silva, Dorinda; Martinez, Antonio F.; Moravej, Hossein; Õunap, Katrin; Pascoal, Carlota; Pascreau, Tiffany; Patterson, Marc; Quelhas, Dulce; Raymond, Kimiyo; Sarkhail, Peymaneh; Schiff, Manuel; Seroczyńska, Małgorzata; Serrano, Mercedes; Seta, Nathalie; Sykut-Cegielska, Jolanta; Thiel, Christian; Tort, Federic; Vals, Mari Anne; Videira, Paula; Witters, Peter; Zeevaert, Renate; Morava, Eva | review |  |
1-Jan-2021 | International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG) | Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, Sarah; Falkenstein, Kristina; Ferreira, Vanessa; 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 | review |  |