Jaak Jaeken
AuthID: R-006-P99
1
TITLE: Treatment of congenital disorders of glycosylation: An overview Full Text
AUTHORS: Quelhas, Dulce; Jaeken, Jaak;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 143, ISSUE: 1-2
AUTHORS: Quelhas, Dulce; Jaeken, Jaak;
PUBLISHED: 2024, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 143, ISSUE: 1-2
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
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
3
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
4
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
Scopus5
TITLE: Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation Full Text
AUTHORS: Claudia de Freitas ; Vanessa dos Reis; Susana Silva ; Paula A Videira; Eva Morava; Jaak Jaeken;
PUBLISHED: 2017, SOURCE: BMC HEALTH SERVICES RESEARCH, VOLUME: 17, ISSUE: 1
AUTHORS: Claudia de Freitas ; Vanessa dos Reis; Susana Silva ; Paula A Videira; Eva Morava; Jaak Jaeken;
PUBLISHED: 2017, SOURCE: BMC HEALTH SERVICES RESEARCH, VOLUME: 17, ISSUE: 1
6
TITLE: CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation
AUTHORS: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
AUTHORS: Jos C Jansen; Sebahattin Cirak; Monique van Scherpenzeel; Sharita Timal; Janine Reunert; Stephan Rust; Belen Perez; Dorothee Vicogne; Peter Krawitz; Yoshinao Wada; Angel Ashikov; Celia Perez Cerda; Celia Medrano; Andrea Arnoldy; Alexander Hoischen; Karin Huijben; Gerry Steenbergen; Dulce Quelhas; Luisa Diogo; Daisy Rymen; ...More
PUBLISHED: 2016, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 98, ISSUE: 2
7
TITLE: ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients. HUMAN MUTATION Full Text
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
AUTHORS: Bobby G Ng; Sergey A Shiryaev; Daisy Rymen; Erik A Eklund; Kimiyo Raymond; Martin Kircher; Jose E Abdenur; Fusun Alehan; Alina T Midro; Michael J Bamshad; Rita Barone; Gerard T Berry; Jane E Brumbaugh; Kati J Buckingham; Katie Clarkson; Sessions S Cole; Shawn O'Connor; Gregory M Cooper; Rudy Van Coster; Laurie A Demmer; ...More
PUBLISHED: 2016, SOURCE: HUMAN MUTATION, VOLUME: 37, ISSUE: 7
8
TITLE: Immunological aspects of congenital disorders of glycosylation (CDG): a review Full Text
AUTHORS: Maria Monticelli; Tiago Ferro; Jaak Jaeken; Vanessa dos Reis Ferreira; Paula A Videira;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 6
AUTHORS: Maria Monticelli; Tiago Ferro; Jaak Jaeken; Vanessa dos Reis Ferreira; Paula A Videira;
PUBLISHED: 2016, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 39, ISSUE: 6
9
TITLE: Clinical presentation and outcome in a series of 88 patients with the cblC defect Full Text
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
10
TITLE: MAN1B1 Deficiency: An Unexpected CDG-II Full Text
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12
AUTHORS: Daisy Rymen; Romain Peanne; Maria B Millon; Valerie Race; Luisa Sturiale; Domenico Garozzo; Philippa Mills; Peter Clayton; Carla G Asteggiano; Dulce Quelhas; Ali Cansu; Esmeralda Martins ; Marie Cecile Nassogne; Miguel Goncalves Rocha; Haluk Topaloglu; Jaak Jaeken; Francois Foulquier; Gert Matthijs;
PUBLISHED: 2013, SOURCE: PLOS GENETICS, VOLUME: 9, ISSUE: 12
