Esmeralda Emilia Gomes Martins
AuthID: R-00J-QTW
11
TITLE: Continuous use of glycomacropeptide in the nutritional management of patients with phenylketonuria: a clinical perspective Full Text
AUTHORS: Pena, MJ; Pinto, A; de Almeida, MF; Barbosa, CD; Ramos, PC; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; Dias, CC ; MacDonald, A; Borges, N ; Rocha, JC ;
PUBLISHED: 2021, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 16, ISSUE: 1
AUTHORS: Pena, MJ; Pinto, A; de Almeida, MF; Barbosa, CD; Ramos, PC; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; Dias, CC ; MacDonald, A; Borges, N ; Rocha, JC ;
PUBLISHED: 2021, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 16, ISSUE: 1
12
TITLE: Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
AUTHORS: Rossignol, F; Moreno, MSD; Benoist, JF; Boehm, M; Bourrat, E; Cano, A; Chabrol, B; Cosson, C; Diaz, JLD; D'Harlingue, A; Dimmock, D; Freeman, AF; Garcia, MT; Garganta, C; Goerge, T; Halbach, SS; de Laffolie, J; Lam, CT; Martin, L; Martins, E; ...More
PUBLISHED: 2021, SOURCE: GENETICS IN MEDICINE, VOLUME: 23, ISSUE: 9
AUTHORS: Rossignol, F; Moreno, MSD; Benoist, JF; Boehm, M; Bourrat, E; Cano, A; Chabrol, B; Cosson, C; Diaz, JLD; D'Harlingue, A; Dimmock, D; Freeman, AF; Garcia, MT; Garganta, C; Goerge, T; Halbach, SS; de Laffolie, J; Lam, CT; Martin, L; Martins, E; ...More
PUBLISHED: 2021, SOURCE: GENETICS IN MEDICINE, VOLUME: 23, ISSUE: 9
IN MY: 
ORCID | 
CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE13
TITLE: Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center Full Text
AUTHORS: Barbosa Gouveia, S; Vazquez Mosquera, ME; Gonzalez Vioque, E; Alvarez, JV; Chans, R; Laranjeira, F; Martins, E; Ferreira, AC; Avila Alvarez, A; Couce, ML;
PUBLISHED: 2021, SOURCE: GENES, VOLUME: 12, ISSUE: 8
AUTHORS: Barbosa Gouveia, S; Vazquez Mosquera, ME; Gonzalez Vioque, E; Alvarez, JV; Chans, R; Laranjeira, F; Martins, E; Ferreira, AC; Avila Alvarez, A; Couce, ML;
PUBLISHED: 2021, SOURCE: GENES, VOLUME: 12, ISSUE: 8
INDEXED IN: 
Scopus 
WOS
Scopus WOS IN MY: ORCID | CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE14
TITLE: Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations Full Text
AUTHORS: Kanufre, V; Almeida, MF ; Barbosa, CS; Carmona, C ; Bandeira, A; Martins, E; Rocha, S; Guimas, A; Ribeiro, R; MacDonald, A; Pinto, A; Rocha, JC ;
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 9
AUTHORS: Kanufre, V; Almeida, MF ; Barbosa, CS; Carmona, C ; Bandeira, A; Martins, E; Rocha, S; Guimas, A; Ribeiro, R; MacDonald, A; Pinto, A; Rocha, JC ;
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 9
IN MY: ORCID | CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE15
TITLE: Assessing the effects of PMM2 variants on protein stability Full Text
AUTHORS: Quelhas, D ; Carneiro, J; Lopes Marques, M; Jaeken, J; Martins, E; Rocha, JF; Carla, SST; Ferreira, CR; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 134, ISSUE: 4
AUTHORS: Quelhas, D ; Carneiro, J; Lopes Marques, M; Jaeken, J; Martins, E; Rocha, JF; Carla, SST; Ferreira, CR; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 134, ISSUE: 4
IN MY: ORCID | CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE16
TITLE: Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center Full Text
AUTHORS: Sofia Barbosa-Gouveia; María E Vázquez-Mosquera; Emiliano González-Vioque; José V Álvarez; Roi Chans; Francisco Laranjeira ; Esmeralda Martins; Ana Cristina Ferreira; Alejandro Avila-Alvarez; María L Couce;
PUBLISHED: 2021, SOURCE: Genes, VOLUME: 12, ISSUE: 8
AUTHORS: Sofia Barbosa-Gouveia; María E Vázquez-Mosquera; Emiliano González-Vioque; José V Álvarez; Roi Chans; Francisco Laranjeira ; Esmeralda Martins; Ana Cristina Ferreira; Alejandro Avila-Alvarez; María L Couce;
PUBLISHED: 2021, SOURCE: Genes, VOLUME: 12, ISSUE: 8
IN MY: ORCID | CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE17
TITLE: Tratamento de doenças lisossomais de sobrecarga: relatório 2020
AUTHORS: Anabela Oliveira; Carla Pereira; Cristina Ribeiro; Elisa L Teles; Esmeralda Martins; Hélder Duarte; Susana Carvalho; Inês Costa; Beatriz Macedo; Olga Azevedo; Sandra Alves; Sílvia Sequeira; Ana C Ferreira; Maria d C Macário; Tabita M Maia; Comissão C d T d D L de Sobrecarga;
PUBLISHED: 2021
AUTHORS: Anabela Oliveira; Carla Pereira; Cristina Ribeiro; Elisa L Teles; Esmeralda Martins; Hélder Duarte; Susana Carvalho; Inês Costa; Beatriz Macedo; Olga Azevedo; Sandra Alves; Sílvia Sequeira; Ana C Ferreira; Maria d C Macário; Tabita M Maia; Comissão C d T d D L de Sobrecarga;
PUBLISHED: 2021
INDEXED IN: 
Handle
Handle18
TITLE: Tratamento de doenças lisossomais de sobrecarga: relatório 2019
AUTHORS: Elisa L Teles; Carla Pereira; Anabela Oliveira; Esmeralda Martins; Hélder Duarte; Jorge Rodrigues; Inês Costa; Olga Azevedo; Sandra Alves; Sílvia Sequeira; Tabita M Maia; Maria d C Macário; Comissão C d T d D L de Sobrecarga;
PUBLISHED: 2020
AUTHORS: Elisa L Teles; Carla Pereira; Anabela Oliveira; Esmeralda Martins; Hélder Duarte; Jorge Rodrigues; Inês Costa; Olga Azevedo; Sandra Alves; Sílvia Sequeira; Tabita M Maia; Maria d C Macário; Comissão C d T d D L de Sobrecarga;
PUBLISHED: 2020
INDEXED IN: Handle
Handle19
TITLE: Fenilcetonúria em Portugal: 40 anos de rastreio neonatal (1979-2019). Phenylketonuria in Portugal: 40 years of neonatal screening (1979-2019)
AUTHORS: Filipa Ferreira; Luísa A C Sousa; Raquel Neiva; Helena Fonseca; Ana Marcão; Hugo Rocha; Célia Carmona; Sónia Ramos; Anabela Bandeira; Esmeralda Martins; Teresa Campos; Esmeralda Rodrigues; Paula Garcia; Luísa Diogo; Ana C Ferreira; Silvia Sequeira; Francisco Silva; Luísa Rodrigues; Ana Gaspar; Patrícia Janeiro; ...More
PUBLISHED: 2020, SOURCE: Boletim Epidemiológico Observações, VOLUME: 8, ISSUE: 28
AUTHORS: Filipa Ferreira; Luísa A C Sousa; Raquel Neiva; Helena Fonseca; Ana Marcão; Hugo Rocha; Célia Carmona; Sónia Ramos; Anabela Bandeira; Esmeralda Martins; Teresa Campos; Esmeralda Rodrigues; Paula Garcia; Luísa Diogo; Ana C Ferreira; Silvia Sequeira; Francisco Silva; Luísa Rodrigues; Ana Gaspar; Patrícia Janeiro; ...More
PUBLISHED: 2020, SOURCE: Boletim Epidemiológico Observações, VOLUME: 8, ISSUE: 28
INDEXED IN: Handle
Handle20
TITLE: Tratamento de doenças lisossomais de sobrecarga: relatório 2018
AUTHORS: Elisa L Teles; Anabela Oliveira; Esmeralda Martins; Hélder Duarte; Jorge Rodrigues; Olga Azevedo; Sandra Alves; Sílvia Sequeira; Tabita M Maia; Comissão C d T d D L de Sobrecarga;
PUBLISHED: 2020
AUTHORS: Elisa L Teles; Anabela Oliveira; Esmeralda Martins; Hélder Duarte; Jorge Rodrigues; Olga Azevedo; Sandra Alves; Sílvia Sequeira; Tabita M Maia; Comissão C d T d D L de Sobrecarga;
PUBLISHED: 2020
INDEXED IN: Handle
Handle IN MY: ORCID
ORCID