21
TITLE: New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
AUTHORS: Francisco, R; Pascoal, C; Marques da Silva, D; Brasil, S; Pimentel Santos, FM; Altassan, R; Jaeken, J; Grosso, AR; Ferreira, VD; Videira, PA;
PUBLISHED: 2020, SOURCE: JOURNAL OF CLINICAL MEDICINE, VOLUME: 9, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 22 Handle
IN MY: ORCID
22
TITLE: International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management
AUTHORS: Altassan, R; Radenkovic, S; Edmondson, AC; Barone, R; Brasil, S; Cechova, A; Coman, D; Donoghue, S; Falkenstein, K; Ferreira, V; Ferreira, C; Fiumara, A; Francisco, R; Freeze, H; Grunewald, S; Honzik, T; Jaeken, J; Krasnewich, D; Lam, C; Lee, J; Lefeber, D; Marques da Silva, D; Pascoal, C; Quelhas, D; Raymond, KM; Rymen, D; Seroczynska, M; Serrano, M; Sykut Cegielska, J; Thiel, C; Tort, F; Vals, MA; Videira, P; Voermans, N; Witters, P; Morava, E; ...More
PUBLISHED: 2020, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 44, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 33
IN MY: ORCID
23
TITLE: The challenge of CDG diagnosis
AUTHORS: Francisco, R; Marques Da Silva, D; Brasil, S; Pascoal, C; dos Reis, VF; Morava, E; Jaeken, J;
PUBLISHED: 2019, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 126, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 77
IN MY: ORCID
24
TITLE: International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
AUTHORS: Altassan, R; Peanne, R; Jaeken, J; Barone, R; Bidet, M; Borgel, D; Brasil, S; Cassiman, D; Cechova, A; Coman, D; Corral, J; Correia, J; de la Morena Barrio, ME; de Lonlay, P; Dos Reis, V; Ferreira, CR; Fiumara, A; Francisco, R; Freeze, H; Funke, S; Gardeitchik, T; Gert, M; Girad, M; Giros, M; Grunewald, S; Hernandez Caselles, T; Honzik, T; Hutter, M; Krasnewich, D; Lam, C; Lee, J; Lefeber, D; Marques de Silva, D; Martinez, AF; Moravej, H; Ounap, K; Pascoal, C; Pascreau, T; Patterson, M; Quelhas, D; Raymond, K; Sarkhail, P; Schiff, M; Seroczynska, M; Serrano, M; Seta, N; Sykut Cegielska, J; Thiel, C; Tort, F; Vals, MA; Videira, P; Witters, P; Zeevaert, R; Morava, E; ...More
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 93
IN MY: ORCID
25
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; Ferreira, VD;
PUBLISHED: 2019, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS
IN MY: ORCID
26
TITLE: Experimental development of antioxidant alginate films
AUTHORS: Silva, J; Marques Da Silva, D; Ribeiro, V; Lagoa, R;
PUBLISHED: 2019, SOURCE: 6th IEEE Portuguese Meeting on Bioengineering, ENBENG 2019 in 6th IEEE Portuguese Meeting on Bioengineering, ENBENG 2019 - Proceedings
INDEXED IN: Scopus
IN MY: ORCID
27
TITLE: Polyoxovanadate inhibition of Escherichia coli growth shows a reverse correlation with Ca2+-ATPase inhibition
AUTHORS: Marques da Silva, D; Fraqueza, G ; Lagoa, R; Vannathan, AA; Mal, SS; Aureliano, M;
PUBLISHED: 2019, SOURCE: NEW JOURNAL OF CHEMISTRY, VOLUME: 43, ISSUE: 45
INDEXED IN: Scopus WOS CrossRef: 31
IN MY: ORCID
28
TITLE: An electronic questionnaire for liver assessment in congenital disorders of glycosylation (LeQCDG): A patient-centered study
AUTHORS: Marques-da-Silva D.; Francisco R.; dos Reis Ferreira V.; Forbat L.; Lagoa R.; Videira P.A.; Witters P.; Jaeken J.; Cassiman D.;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 44
INDEXED IN: Scopus
IN MY: ORCID
29
TITLE: Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review
AUTHORS: Rita Francisco; Carlota Pascoal; Dorinda Marques‐da‐Silva; Eva Morava; Glen A Gole; David Coman; Jaak Jaeken; Vanessa dos Reis Ferreira;
PUBLISHED: 2019, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 42, ISSUE: 1
INDEXED IN: CrossRef: 16
IN MY: ORCID
30
TITLE: Experimental Development of Antioxidant Alginate Films
AUTHORS: Joao Silva; Dorinda Marques-da-Silva; Vania Ribeiro; Ricardo Lagoa;
PUBLISHED: 2019, SOURCE: 2019 IEEE 6th Portuguese Meeting on Bioengineering (ENBENG)
INDEXED IN: CrossRef
IN MY: ORCID
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