1
TITLE: Congenital disorders of glycosylation (CDG): state of the art in 2022  Full Text
AUTHORS: Francisco, Rita; Brasil, Sandra; Poejo, Joana; Jaeken, Jaak; Pascoal, Carlota; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2023, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 18, ISSUE: 1
INDEXED IN: Scopus WOS
2
TITLE: The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ)  Full Text
AUTHORS: Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Jaeken, Jaak; Liddle, Merell; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
3
TITLE: A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation  Full Text
AUTHORS: Francisco, Rita; Brasil, Sandra; Pascoal, Carlota; Edmondson, Andrew C.; Jaeken, Jaak; Videira, Paula A.; de Freitas, Claudia ; Ferreira, Vanessa dos Reis; Marques da Silva, Dorinda;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 11
INDEXED IN: WOS CrossRef: 1
4
TITLE: Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective  Full Text
AUTHORS: Monticelli, Maria; Francisco, Rita; Brasil, Sandra; Marques da Silva, Dorinda; Rijoff, Tatiana; Pascoal, Carlota; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
5
TITLE: Concerted Regulation of Glycosylation Factors Sustains Tissue Identity and Function
AUTHORS: Sobral, Daniel; Francisco, Rita; Duro, Laura; Videira, Paula Alexandra; Grosso, Ana Rita;
PUBLISHED: 2022, SOURCE: BIOMEDICINES, VOLUME: 10, ISSUE: 8
INDEXED IN: Scopus WOS
8
TITLE: Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?  Full Text
AUTHORS: Cardao, C; Barros, L; Francisco, R; Silva, D; Ferreira, VR;
PUBLISHED: 2021, SOURCE: DISABILITY AND HEALTH JOURNAL, VOLUME: 14, ISSUE: 3
INDEXED IN: WOS
9
TITLE: CDG and immune response: From bedside to bench and back  Full Text
AUTHORS: Carlota Pascoal; Rita Francisco; Tiago Ferro; Vanessa dos Reis Ferreira; Jaak Jaeken; Paula A Videira;
PUBLISHED: 2020, SOURCE: Annual Symposium of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism (SSIEM) in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 43, ISSUE: 1
INDEXED IN: Scopus WOS
10
TITLE: New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
AUTHORS: Rita Francisco; Carlota Pascoal; Dorinda Marques da Silva; Sandra Brasil; Fernando M Pimentel Santos; Ruqaiah Altassan; Jaak Jaeken; Ana Rita Grosso; Vanessa D dos Reis Ferreira; Paula A Videira;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 7
INDEXED IN: WOS
Página 1 de 3. Total de resultados: 26.