Jaak Jaeken
AuthID: R-006-P99
1
TITLE: A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases Full Text
AUTHORS: Falcão, M; Allocca, M; Rodrigues, AS; Granjo, P; Francisco, R; Pascoal, C; Rossi, MG; Marques da Silva, D; Magrinho, SCM; Jaeken, J; Castro, LA; de Freitas, C ; Videira, PA; de Andrés Aguayo, L; dos Reis Ferreira, V;
PUBLISHED: 2023, SOURCE: International Journal of Environmental Research and Public Health, VOLUME: 20, ISSUE: 2
AUTHORS: Falcão, M; Allocca, M; Rodrigues, AS; Granjo, P; Francisco, R; Pascoal, C; Rossi, MG; Marques da Silva, D; Magrinho, SCM; Jaeken, J; Castro, LA; de Freitas, C ; Videira, PA; de Andrés Aguayo, L; dos Reis Ferreira, V;
PUBLISHED: 2023, SOURCE: International Journal of Environmental Research and Public Health, VOLUME: 20, ISSUE: 2
2
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
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
Scopus WOS3
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
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
Scopus WOS4
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
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
5
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
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
Scopus WOS6
TITLE: Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG) Full Text
AUTHORS: Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C. M.; Santos, Ines; 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;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 15
AUTHORS: Brasil, Sandra; Allocca, Mariateresa; Magrinho, Salvador C. M.; Santos, Ines; 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;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 23, ISSUE: 15
INDEXED IN: Scopus WOS
Scopus WOS7
TITLE: A Participatory Framework for Plain Language Clinical Management Guideline Development Full Text
AUTHORS: Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Ines; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 20
AUTHORS: Francisco, Rita; Alves, Susana; Gomes, Catarina; Granjo, Pedro; Pascoal, Carlota; Brasil, Sandra; Neves, Alice; Santos, Ines; Miller, Andrea; Krasnewich, Donna; Morava, Eva; Lam, Christina; Jaeken, Jaak; Videira, Paula A.; Ferreira, Vanessa dos Reis;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH, VOLUME: 19, ISSUE: 20
INDEXED IN: Scopus WOS
Scopus WOS8
TITLE: Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals Full Text
AUTHORS: Pascoal, C.; Ferreira, I; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; Ferreira, V. dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
AUTHORS: Pascoal, C.; Ferreira, I; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; Ferreira, V. dos Reis;
PUBLISHED: 2022, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 17, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS9
TITLE: Genetic modifiers in glycosylation pathways: Is there a link between PMM2 and PGM1? Full Text
AUTHORS: Quelhas, Dulce ; Jaeken, Jaak; Azevedo, Luisa ;
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
AUTHORS: Quelhas, Dulce ; Jaeken, Jaak; Azevedo, Luisa ;
PUBLISHED: 2022, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: Scopus WOS
Scopus WOS10
TITLE: SLC35A2-CDG: Novel variant and review
AUTHORS: Quelhas, D ; Correia, J; Jaeken, J; Azevedo, L; Lopes Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, E ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 26
AUTHORS: Quelhas, D ; Correia, J; Jaeken, J; Azevedo, L; Lopes Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, E ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 26
