Sandra Dolores Arduim Brasil
AuthID: R-000-SY6
11
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 WOS12
TITLE: Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter? Full Text
AUTHORS: Sandra Brasil; Carlota Pascoal; Rita Francisco; Vanessa dos Reis Ferreira; Paula A Videira; Goncalo Valadao;
PUBLISHED: 2019, SOURCE: GENES, VOLUME: 10, ISSUE: 12
AUTHORS: Sandra Brasil; Carlota Pascoal; Rita Francisco; Vanessa dos Reis Ferreira; Paula A Videira; Goncalo Valadao;
PUBLISHED: 2019, SOURCE: GENES, VOLUME: 10, ISSUE: 12
INDEXED IN: Scopus WOS
Scopus WOS13
TITLE: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants Full Text
AUTHORS: Sandra Brasil; Fatima Leal; Ana Vega; Rosa Navarrete; Maria J Jesus Ecay; Lourdes R Desviat; Casandra Riera; Natalia Padilla; Xavier de la Cruz; Mari L Luz Couce; Elena Martin Hernandez; Ana Morais; Consuelo Pedron; Luis Pena Quintana; Miriam Rigoldi; Norma Specola; Isabel T Tavares de Almeida; Inmaculada Vives; Raquel Yahyaoui; Pilar Rodriguez Pombo; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
AUTHORS: Sandra Brasil; Fatima Leal; Ana Vega; Rosa Navarrete; Maria J Jesus Ecay; Lourdes R Desviat; Casandra Riera; Natalia Padilla; Xavier de la Cruz; Mari L Luz Couce; Elena Martin Hernandez; Ana Morais; Consuelo Pedron; Luis Pena Quintana; Miriam Rigoldi; Norma Specola; Isabel T Tavares de Almeida; Inmaculada Vives; Raquel Yahyaoui; Pilar Rodriguez Pombo; ...More
PUBLISHED: 2018, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS14
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 WOS