Eva Morava
AuthID: R-00G-F4P
1
TITLE: Patient-reported outcomes and quality of life in PMM2-CDG Full Text
AUTHORS: Ligezka, Anna N.; Mohamed, Anab; Pascoal, Carlota; Ferreira, Vanessa Dos Reis; Boyer, Suzanne; Lam, Christina; Edmondson, Andrew; Krzysciak, Wirginia; Golebiowski, Raphael; Perez Ortiz, Judit; Morava, Eva;
PUBLISHED: 2022, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 136, ISSUE: 2
AUTHORS: Ligezka, Anna N.; Mohamed, Anab; Pascoal, Carlota; Ferreira, Vanessa Dos Reis; Boyer, Suzanne; Lam, Christina; Edmondson, Andrew; Krzysciak, Wirginia; Golebiowski, Raphael; Perez Ortiz, Judit; Morava, Eva;
PUBLISHED: 2022, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 136, ISSUE: 2
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
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 WOS3
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 WOS4
TITLE: Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?
AUTHORS: Cechova, A; Honzik, T; Edmondson, AC; Ficicioglu, C; Serrano, M; Barone, R; De Lonlay, P; Schiff, M; Witters, P; Lam, C; Patterson, M; Janssen, MCH; Correia, J; Quelhas, D; Sykut Cegielska, J; Plotkin, H; Morava, E; Sarafoglou, K;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 133, ISSUE: 4
AUTHORS: Cechova, A; Honzik, T; Edmondson, AC; Ficicioglu, C; Serrano, M; Barone, R; De Lonlay, P; Schiff, M; Witters, P; Lam, C; Patterson, M; Janssen, MCH; Correia, J; Quelhas, D; Sykut Cegielska, J; Plotkin, H; Morava, E; Sarafoglou, K;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 133, ISSUE: 4
INDEXED IN: WOS
WOS5
TITLE: Genotype-Phenotype Correlations in PMM2-CDG Full Text
AUTHORS: Vaes, L; Rymen, D; Cassiman, D; Ligezka, A; Vanhoutvin, N; Quelhas, D; Morava, E; Witters, P;
PUBLISHED: 2021, SOURCE: GENES, VOLUME: 12, ISSUE: 11
AUTHORS: Vaes, L; Rymen, D; Cassiman, D; Ligezka, A; Vanhoutvin, N; Quelhas, D; Morava, E; Witters, P;
PUBLISHED: 2021, SOURCE: GENES, VOLUME: 12, ISSUE: 11
INDEXED IN: Scopus WOS
Scopus WOS6
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 WOS7
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 WOS8
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 WOS9
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 WOS10
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