Jaak Jaeken
AuthID: R-006-P99
11
TITLE: Assessing the effects of PMM2 variants on protein stability Full Text
AUTHORS: Quelhas, D ; Carneiro, J; Lopes Marques, M; Jaeken, J; Martins, E; Rocha, JF; Carla, SST; Ferreira, CR; Sérgio F. Sousa ; Azevedo, L;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 134, ISSUE: 4
AUTHORS: Quelhas, D ; Carneiro, J; Lopes Marques, M; Jaeken, J; Martins, E; Rocha, JF; Carla, SST; Ferreira, CR; Sérgio F. Sousa ; Azevedo, L;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 134, ISSUE: 4
12
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
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
Scopus WOS13
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
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
WOS14
TITLE: International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management Full Text
AUTHORS: Ruqaiah Altassan; Silvia Radenkovic; Andrew C Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
AUTHORS: Ruqaiah Altassan; Silvia Radenkovic; Andrew C Edmondson; Rita Barone; Sandra Brasil; Anna Cechova; David Coman; Sarah Donoghue; Kristina Falkenstein; Vanessa Ferreira; Carlos Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Stephanie Grunewald; Tomas Honzik; Jaak Jaeken; Donna Krasnewich; Christina Lam; Joy Lee; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE
INDEXED IN: Scopus WOS
Scopus WOS15
TITLE: New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
AUTHORS: Francisco, R; Pascoal, C; Marques Silva, D; Brasil, S; Pimentel Santos, F; Altassan, R; Jaeken, J; Grosso, AR; Ferreira, V; Videira, PA;
PUBLISHED: 2020, SOURCE: GLYCOBIOLOGY, VOLUME: 30, ISSUE: 12
AUTHORS: Francisco, R; Pascoal, C; Marques Silva, D; Brasil, S; Pimentel Santos, F; Altassan, R; Jaeken, J; Grosso, AR; Ferreira, V; Videira, PA;
PUBLISHED: 2020, SOURCE: GLYCOBIOLOGY, VOLUME: 30, ISSUE: 12
INDEXED IN: WOS
WOS16
TITLE: The challenge of CDG diagnosis Full Text
AUTHORS: Francisco, R; Marques da Silva, D; Brasil, S; Pascoal, C; dos Reis Ferreira, VF; Morava, E; Jaeken, J;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 126, ISSUE: 1
AUTHORS: Francisco, R; Marques da Silva, D; Brasil, S; Pascoal, C; dos Reis Ferreira, VF; Morava, E; Jaeken, J;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 126, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS17
TITLE: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up Full Text
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
AUTHORS: Ruqaiah Altassan; Romain Peanne; Jaak Jaeken; Rita Barone; Muad Bidet; Delphine Borgel; Sandra Brasil; David Cassiman; Anna Cechova; David Coman; Javier Corral; Joana Correia; Maria Eugenia de la Morena Barrio; Pascale de Lonlay; Vanessa Dos Reis; Carlos R Ferreira; Agata Fiumara; Rita Francisco; Hudson Freeze; Simone Funke; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS18
TITLE: Renal involvement in PMM2-CDG, a mini-review Full Text
AUTHORS: Ruqaiah Altassan; Peter Witters; Zubaida Saifudeen; Dulce Quelhas; Jaak Jaeken; Elena Levtchenko; David Cassiman; Eva Morava;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 3
AUTHORS: Ruqaiah Altassan; Peter Witters; Zubaida Saifudeen; Dulce Quelhas; Jaak Jaeken; Elena Levtchenko; David Cassiman; Eva Morava;
PUBLISHED: 2018, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 123, ISSUE: 3
INDEXED IN: Scopus WOS
Scopus WOS19
TITLE: Recognizable phenotypes in CDG
AUTHORS: Ferreira, CR; Altassan, R; Marques da Silva, D; Francisco, R; Jaeken, J; Morava, E;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
AUTHORS: Ferreira, CR; Altassan, R; Marques da Silva, D; Francisco, R; Jaeken, J; Morava, E;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
INDEXED IN: Scopus
Scopus20
TITLE: Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
AUTHORS: Francisco, R; Pascoal, C; Marques da Silva, D; Morava, E; Gole, GA; Coman, D; Jaeken, J; Dos Reis Ferreira, V;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
AUTHORS: Francisco, R; Pascoal, C; Marques da Silva, D; Morava, E; Gole, GA; Coman, D; Jaeken, J; Dos Reis Ferreira, V;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
INDEXED IN: Scopus
Scopus