Jaak Jaeken
AuthID: R-006-P99
21
TITLE: Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review Full Text
AUTHORS: Carlota Pascoal; Sandra Brasil; Rita Francisco; Dorinda Marques da Silva; Agnes Rafalko; Jaak Jaeken; Paula A Videira; Luisa Barros; Vanessa dos Reis Ferreira;
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
AUTHORS: Carlota Pascoal; Sandra Brasil; Rita Francisco; Dorinda Marques da Silva; Agnes Rafalko; Jaak Jaeken; Paula A Videira; Luisa Barros; Vanessa dos Reis Ferreira;
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
INDEXED IN: 
Scopus 
WOS
Scopus WOS22
TITLE: Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature Full Text
AUTHORS: Marques da Silva, D; dos Reis Ferreira; Monticelli, M; Janeiro, P; Videira, PA; Witters, P; Jaeken, J; Cassiman, D;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 2
AUTHORS: Marques da Silva, D; dos Reis Ferreira; Monticelli, M; Janeiro, P; Videira, PA; Witters, P; Jaeken, J; Cassiman, D;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS23
TITLE: Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature Full Text
AUTHORS: Marques da Silva, D; Francisco, R; Webster, D; dos Reis Ferreira, VD; Jaeken, J; Pulinilkunnil, T;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 5
AUTHORS: Marques da Silva, D; Francisco, R; Webster, D; dos Reis Ferreira, VD; Jaeken, J; Pulinilkunnil, T;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 5
INDEXED IN: WOS
WOS24
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
25
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
26
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
27
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
28
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
29
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
30
TITLE: De Barsy syndrome and ATP6V0A2-CDG Full Text
AUTHORS: Elisa Leao Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
AUTHORS: Elisa Leao Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
INDEXED IN: Scopus WOS
Scopus WOS