Silvia Maria dos Ramos Alves Sequeira
AuthID: R-001-PZH
11
TITLE: MEGDEL Syndrome: Expanding the Phenotype and New Mutations
AUTHORS: Silvia Sequeira; Marcia Rodrigues; Sandra Jacinto; Ron A Wevers; Saskia B Wortmann;
PUBLISHED: 2017, SOURCE: NEUROPEDIATRICS, VOLUME: 48, ISSUE: 5
AUTHORS: Silvia Sequeira; Marcia Rodrigues; Sandra Jacinto; Ron A Wevers; Saskia B Wortmann;
PUBLISHED: 2017, SOURCE: NEUROPEDIATRICS, VOLUME: 48, ISSUE: 5
INDEXED IN: 
WOS
WOS12
TITLE: 4-MUF-NAG for fungal biomass determination: Scope and limitations in the context of biodeterioration studies Full Text
AUTHORS: Silvia Oliveira Sequeira; Mathilda L Coutinho; Joao C Lima; Alan J L Phillips; Maria F Macedo; Eurico J Cabrita;
PUBLISHED: 2016, SOURCE: JOURNAL OF CULTURAL HERITAGE, VOLUME: 22
AUTHORS: Silvia Oliveira Sequeira; Mathilda L Coutinho; Joao C Lima; Alan J L Phillips; Maria F Macedo; Eurico J Cabrita;
PUBLISHED: 2016, SOURCE: JOURNAL OF CULTURAL HERITAGE, VOLUME: 22
13
TITLE: A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal Full Text
AUTHORS: Ana I Coelho; Ruben Ramos; Ana Gaspar; Claudia Costa; Anabela Oliveira; Luisa Diogo; Paula Garcia; Sandra Paiva; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Cardoso, MT; Elena Ferreira; Silvia Sequeira; Margarida Leite; Maria Joao Silva; Isabel Tavares de Almeida; Joao B Vicente ; Isabel Rivera ;
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 1
AUTHORS: Ana I Coelho; Ruben Ramos; Ana Gaspar; Claudia Costa; Anabela Oliveira; Luisa Diogo; Paula Garcia; Sandra Paiva; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Teresa Cardoso, MT; Elena Ferreira; Silvia Sequeira; Margarida Leite; Maria Joao Silva; Isabel Tavares de Almeida; Joao B Vicente ; Isabel Rivera ;
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 1
14
TITLE: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community Full Text
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
15
TITLE: Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type Full Text
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
