Mostrar resultados 1-20 de 21.
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| Data | Título | Autor(es) | Tipo | Acesso |
| 5-Jan-2023 | A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases | Falcão, Marta; Allocca, Mariateresa; Rodrigues, Ana Sofia; Granjo, Pedro; Francisco, Rita; Pascoal, Carlota; Rossi, Maria Grazia; Marques-da-Silva, Dorinda; Magrinho, Salvador C. M.; Jaeken, Jaak; Castro, Larisa Aragon; de Freitas, Cláudia; Videira, Paula A.; de Andrés-Aguayo, Luísa; dos Reis Ferreira, Vanessa | article |  |
| Dez-2024 | A community-centric model for conference co-creation | Francisco, Rita; Pascoal, Carlota; Granjo, Pedro; de Freitas, Claudia; Videira, Paula A.; dos Reis Ferreira, Vanessa | article | |
| 2-Jun-2022 | A Community-Led Approach As a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation | Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Edmondson, Andrew C.; Jaeken, Jaak; Videira, Paula A.; de Freitas, Cláudia; Dos Reis Ferreira, Vanessa; Marques-Da-Silva, Dorinda | article | |
| 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 | |
| 2019 | An electronic questionnaire for liver assessment in congenital disorders of glycosylation (LeQCDG): A patient-centered study | Marques-da-Silva, Dorinda; Francisco, Rita; dos Reis Ferreira, Vanessa; Forbat, Liz; Lagoa, Ricardo; Videira, Paula A.; Witters, Peter; Jaeken, Jaak; Cassiman, David | bookPart | |
| 2025 | Anxiety and depressive symptoms among youth in Italy, Spain, and Portugal | Orgilés, Mireia; Amorós-Reche, Víctor; Delvecchio, Elisa; Francisco, Rita; Mazzeschi, Claudia; Godinho, Cristina; Pedro, Marta; Espada, Jose P.; Morales, Alexandra | article | |
| 1-Dez-2019 | Artificial intelligence (AI) in rare diseases: Is the future brighter? | Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Ferreira, Vanessa dos Reis; Videira, Paula A.; Valadão, Gonçalo | review | |
| 1-Mai-2018 | CDG therapies: from bench to bedside | Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Marques-da-Silva, Dorinda; Andreotti, Giuseppina; Videira, Paula A.; Morava, Eva; Jaeken, Jaak; Dos Reis Ferreira, Vanessa | review | |
| Ago-2022 | Concerted Regulation of Glycosylation Factors Sustains Tissue Identity and Function | Sobral, Daniel; Francisco, Rita; Duro, Laura; Videira, Paula Alexandra; Grosso, Ana Rita | article | |
| Dez-2023 | Congenital disorders of glycosylation (CDG) | Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; dos Reis Ferreira, Vanessa | review | |
| Jun-2024 | Daily activities in European children and adolescents during COVID-19 school closure | Orgilés, Mireia; Delvecchio, Elisa; Francisco, Rita; Mazzeschi, Claudia; Godinho, Cristina; Pedro, Marta; Espada, José P.; Morales, Alexandra | article | |
| 2023 | #EntreViagenseAprendizagens | Francisco, Rita; Raposo, Beatriz; Hormigo, Mafalda; Sesifredo, Mónica; Carvalho, Ana; Justo, Ana; Godinho, Cristina albuquerque | 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 | |
| Dez-2024 | Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG) | Granjo, Pedro; Pascoal, Carlota; Gallego, Diana; Francisco, Rita; Jaeken, Jaak; Moors, Tristen; Edmondson, Andrew C.; Kantautas, Kristin A.; Serrano, Mercedes; Videira, Paula A.; dos Reis Ferreira, Vanessa | article | |
| 3-Jul-2020 | New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach | Francisco, Rita; Pascoal, Carlota; Marques-da-Silva, Dorinda; Brasil, Sandra; Pimentel-Santos, Fernando M; Altassan, Ruqaiah; Jaeken, Jaak; Grosso, Ana Rita; Dos Reis Ferreira, Vanessa; Videira, Paula A | article | |
| 2024 | Revisiting the immunopathology of congenital disorders of glycosylation | Pascoal, Carlota; Francisco, Rita; Mexia, Patrícia; Pereira, Beatriz Luís; Granjo, Pedro; Coelho, Helena; Barbosa, Mariana; dos Reis Ferreira, Vanessa; Videira, Paula Alexandra | review | |
| 30-Jul-2022 | Stakeholders' views on drug development | Monticelli, Maria; Francisco, Rita; Brasil, Sandra; Marques-da-Silva, Dorinda; Rijoff, Tatiana; Pascoal, Carlota; Jaeken, Jaak; Videira, Paula A.; Dos Reis Ferreira, Vanessa | article | |
| 5-Ago-2022 | Systematic Review | Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C.M.; Santos, Inês; Raposo, Madalena; Francisco, Rita; Pascoal, Carlota; Martins, Tiago; Videira, Paula A.; Pereira, Florbela; Andreotti, Giuseppina; Jaeken, Jaak; Kantautas, Kristin A.; Perlstein, Ethan O.; Ferreira, Vanessa Dos Reis | review | |
| Dez-2022 | The road to successful people-centric research in rare diseases | Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Jaeken, Jaak; Liddle, Merell; Videira, Paula A.; Dos Reis Ferreira, Vanessa | article | |
