Dorinda Marques da Silva
AuthID: R-001-JD1
31
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, VOLUME: 41, ISSUE: 3
AUTHORS: Ferreira, CR; Altassan, R; Marques da Silva, D; Francisco, R; Jaeken, J; Morava, E;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 41, ISSUE: 3
32
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
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ORCID
ORCID33
TITLE: Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
AUTHORS: Pascoal, C; Brasil, S; Francisco, R; Marques da Silva, D; Rafalko, A; Jaeken, J; Videira, PA; Barros, L; Ferreira, VD;
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
AUTHORS: Pascoal, C; Brasil, S; Francisco, R; Marques da Silva, D; Rafalko, A; Jaeken, J; Videira, PA; Barros, L; Ferreira, VD;
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
34
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, PA; Witters, P; Jaeken, J; Cassiman, D;
PUBLISHED: 2018, SOURCE: JIMD Reports - JIMD Reports, Volume 44
AUTHORS: Marques-da-Silva, D; Francisco, R; dos Reis Ferreira, V; Forbat, L; Lagoa, R; Videira, PA; Witters, P; Jaeken, J; Cassiman, D;
PUBLISHED: 2018, SOURCE: JIMD Reports - JIMD Reports, Volume 44
35
TITLE: CDG therapies: From bench to bedside
AUTHORS: Sandra Brasil; Carlota Pascoal; Rita Francisco; Dorinda Marques da Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa Dos Reis Ferreira;
PUBLISHED: 2018, SOURCE: International Journal of Molecular Sciences, VOLUME: 19, ISSUE: 5
AUTHORS: Sandra Brasil; Carlota Pascoal; Rita Francisco; Dorinda Marques da Silva; Giuseppina Andreotti; Paula A Videira; Eva Morava; Jaak Jaeken; Vanessa Dos Reis Ferreira;
PUBLISHED: 2018, SOURCE: International Journal of Molecular Sciences, VOLUME: 19, ISSUE: 5
36
TITLE: Methyl-β-cyclodextrin impairs the phosphorylation of the β<inf>2</inf> subunit of l-type calcium channels and cytosolic calcium homeostasis in mature cerebellar granule neurons
AUTHORS: Sofia Fortalezas; Dorinda Marques da Silva; Carlos Gutierrez Merino;
PUBLISHED: 2018, SOURCE: International Journal of Molecular Sciences, VOLUME: 19, ISSUE: 11
AUTHORS: Sofia Fortalezas; Dorinda Marques da Silva; Carlos Gutierrez Merino;
PUBLISHED: 2018, SOURCE: International Journal of Molecular Sciences, VOLUME: 19, ISSUE: 11
37
TITLE: Creatine Protects Against Cytosolic Calcium Dysregulation, Mitochondrial Depolarization and Increase of Reactive Oxygen Species Production in Rotenone-Induced Cell Death of Cerebellar Granule Neurons
AUTHORS: Sofia Fortalezas; Dorinda Marques da Silva; Carlos Gutierrez Merino;
PUBLISHED: 2018, SOURCE: Neurotoxicity Research, VOLUME: 34, ISSUE: 3
AUTHORS: Sofia Fortalezas; Dorinda Marques da Silva; Carlos Gutierrez Merino;
PUBLISHED: 2018, SOURCE: Neurotoxicity Research, VOLUME: 34, ISSUE: 3
38
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; Vanessa dos Reis Ferreira;
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; Vanessa dos Reis Ferreira;
PUBLISHED: 2018, SOURCE: Journal of Inherited Metabolic Disease
39
TITLE: Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature
AUTHORS: Marques da Silva, D; Ferreira, VD; 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; Ferreira, VD; Monticelli, M; Janeiro, P; Videira, PA; Witters, P; Jaeken, J; Cassiman, D;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 2
40
TITLE: Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
AUTHORS: Marques-da-Silva D.; Francisco R.; Webster D.; dos Reis Ferreira V.; 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 V.; Jaeken J.; Pulinilkunnil T.;
PUBLISHED: 2017, SOURCE: Journal of Inherited Metabolic Disease, VOLUME: 40, ISSUE: 5
INDEXED IN: Scopus
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ORCID