Esmeralda Emilia Gomes Martins
AuthID: R-00J-QTW
1
TITLE: Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program
AUTHORS: Giugliani, Roberto; Gonzalez Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara; Wang, Raymond; Martins, Esmeralda; Oussoren, Esmeralda; Hennermann, Julia B.; Chabrol, Brigitte; Grant, Christina L.; Sun, Angela; Durand, Consuelo; Hetzer, Joel; Malkus, Betsy; Marsden, Deborah; Merritt II, J. Lawrence;
PUBLISHED: 2024, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, ISSUE: 1
AUTHORS: Giugliani, Roberto; Gonzalez Meneses, Antonio; Scarpa, Maurizio; Burton, Barbara; Wang, Raymond; Martins, Esmeralda; Oussoren, Esmeralda; Hennermann, Julia B.; Chabrol, Brigitte; Grant, Christina L.; Sun, Angela; Durand, Consuelo; Hetzer, Joel; Malkus, Betsy; Marsden, Deborah; Merritt II, J. Lawrence;
PUBLISHED: 2024, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, ISSUE: 1
2
TITLE: Phenotyping mitochondrial glutamyl-tRNA synthetase deficiency (EARS2 ): A case series and systematic literature review Full Text
AUTHORS: Pelayo, Goncalo; Coelho, Margarida Paiva; Correia, Joana; Bandeira, Anabela; Nogueira, Celia; Vilarinho, Laura; Martins, Esmeralda;
PUBLISHED: 2024, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 200
AUTHORS: Pelayo, Goncalo; Coelho, Margarida Paiva; Correia, Joana; Bandeira, Anabela; Nogueira, Celia; Vilarinho, Laura; Martins, Esmeralda;
PUBLISHED: 2024, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 200
3
TITLE: A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum Full Text
AUTHORS: Baldo, Manuela Schubert; Azevedo, Luisa ; Coelho, Margarida Paiva; Martins, Esmeralda; Vilarinho, Laura;
PUBLISHED: 2024, SOURCE: DIAGNOSTICS, VOLUME: 14, ISSUE: 19
AUTHORS: Baldo, Manuela Schubert; Azevedo, Luisa ; Coelho, Margarida Paiva; Martins, Esmeralda; Vilarinho, Laura;
PUBLISHED: 2024, SOURCE: DIAGNOSTICS, VOLUME: 14, ISSUE: 19
4
TITLE: Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG Full Text
AUTHORS: Pajusalu, Sander; Vals, Mari Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire Marine; Vuillaumier Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; ...More
PUBLISHED: 2024, SOURCE: HUMAN MUTATION, VOLUME: 2024
AUTHORS: Pajusalu, Sander; Vals, Mari Anne; Serrano, Mercedes; Witters, Peter; Cechova, Anna; Honzik, Tomas; Edmondson, Andrew C.; Ficicioglu, Can; Barone, Rita; De Lonlay, Pascale; Berat, Claire Marine; Vuillaumier Barrot, Sandrine; Lam, Christina; Patterson, Marc C.; Janssen, Mirian C. H.; Martins, Esmeralda; Quelhas, Dulce; Sykut Cegielska, Jolanta; Mousa, Jehan; Urreizti, Roser; ...More
PUBLISHED: 2024, SOURCE: HUMAN MUTATION, VOLUME: 2024
INDEXED IN: 
Scopus 
WOS
Scopus WOS5
TITLE: Clinical and Laboratory Findings on Glycogen Storage Disease Type V: Results from a Retrospective Observational Study in a Tertiary Hospital
AUTHORS: Ângela Pereira; Jorge Diogo da Silva; Ana Rita Soares; Arlindo Guimas; Sara Rocha; Márcio Cardoso; Cristina Garrido; Célia Azevedo Soares; Isabel Nunes; Ana Maria Fortuna; Dulce Quelhas; Sónia Figueiroa; Rosa Ribeiro; Manuela Santos; Esmeralda Martins; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
AUTHORS: Ângela Pereira; Jorge Diogo da Silva; Ana Rita Soares; Arlindo Guimas; Sara Rocha; Márcio Cardoso; Cristina Garrido; Célia Azevedo Soares; Isabel Nunes; Ana Maria Fortuna; Dulce Quelhas; Sónia Figueiroa; Rosa Ribeiro; Manuela Santos; Esmeralda Martins; Nataliya Tkachenko;
PUBLISHED: 2023, SOURCE: Endocrine, Metabolic & Immune Disorders - Drug Targets, VOLUME: 23
INDEXED IN: 
CrossRef
CrossRef IN MY: 
ORCID | 
CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE6
TITLE: Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia
AUTHORS: Martins, RS; Guimas, A; Rocha, S; Ribeiro, R; Martins, E; Almeida, M; Quelhas, D;
PUBLISHED: 2022, SOURCE: JOURNAL OF MEDICAL CASES, VOLUME: 13, ISSUE: 2
AUTHORS: Martins, RS; Guimas, A; Rocha, S; Ribeiro, R; Martins, E; Almeida, M; Quelhas, D;
PUBLISHED: 2022, SOURCE: JOURNAL OF MEDICAL CASES, VOLUME: 13, ISSUE: 2
7
TITLE: Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team Full Text
AUTHORS: Peres, M; Almeida, MF ; Pinto, EJ; Carmona, C ; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; MacDonald, A; Rocha, JC ;
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 3
AUTHORS: Peres, M; Almeida, MF ; Pinto, EJ; Carmona, C ; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; MacDonald, A; Rocha, JC ;
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 3
IN MY: ORCID | CIÊNCIAVITAE
ORCID | CIÊNCIAVITAE8
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
9
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 | CIÊNCIAVITAE10
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 | CIÊNCIAVITAE