Esmeralda Emilia Gomes Martins
AuthID: R-00J-QTW
1
TITLE: Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients Full Text
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnacao, Marisa; Ribeiro, Diogo; Almeida, Matilde Barbosa; Goncalves, Mariana; David, Hugo; Matos, Liliana; Amaral, Olga; Diogo, Luisa; Ferreira, Sara; Santos, Constanca; Martins, Esmeralda; Prata, Maria Joao ; de Almeida, Luis Pereira ; Alves, Sandra; ...More
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 6
AUTHORS: Carvalho, Sofia; Santos, Juliana Ines; Moreira, Luciana; Duarte, Ana Joana; Gaspar, Paulo; Rocha, Hugo; Encarnacao, Marisa; Ribeiro, Diogo; Almeida, Matilde Barbosa; Goncalves, Mariana; David, Hugo; Matos, Liliana; Amaral, Olga; Diogo, Luisa; Ferreira, Sara; Santos, Constanca; Martins, Esmeralda; Prata, Maria Joao ; de Almeida, Luis Pereira ; Alves, Sandra; ...More
PUBLISHED: 2024, SOURCE: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, VOLUME: 25, ISSUE: 6
2
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
3
TITLE: The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study
AUTHORS: Nogueira, C.; Pereira, C.; Silva, L.; Laranjeira, Mateus; Lopes, A.; Neiva, R.; Rodrigues, E.; Campos, T.; Martins, E.; Bandeira, A.; Coelho, M.; Magalhaes, M.; Damasio, J.; Gaspar, A.; Janeiro, P.; Gomes, A. Levy; Ferreira, A. C.; Jacinto, S.; Vieira, J. P.; Diogo, L.; ...More
PUBLISHED: 2024, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 12
AUTHORS: Nogueira, C.; Pereira, C.; Silva, L.; Laranjeira, Mateus; Lopes, A.; Neiva, R.; Rodrigues, E.; Campos, T.; Martins, E.; Bandeira, A.; Coelho, M.; Magalhaes, M.; Damasio, J.; Gaspar, A.; Janeiro, P.; Gomes, A. Levy; Ferreira, A. C.; Jacinto, S.; Vieira, J. P.; Diogo, L.; ...More
PUBLISHED: 2024, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 12
4
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
5
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
6
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, ISSUE: 1
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, ISSUE: 1
7
TITLE: The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) Full Text
AUTHORS: Giancarlo Parenti; Simona Fecarotta; Marianna Alagia; Federica Attaianese; Alessandra Verde; Antonietta Tarallo; Vincenza Gragnaniello; Athanasia Ziagaki; Maria Jose’ Guimaraes; Patricio Aguiar; Andreas Hahn; Olga Azevedo; Maria Alice Donati; Beata Kiec Wilk; Maurizio Scarpa; Nadine M E van der Beek; Mireja Del Toro Riera; Dominique Germain; Hidde Huidekoper; Johanna P van den Hout; ...More
PUBLISHED: 2024, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, ISSUE: 1
AUTHORS: Giancarlo Parenti; Simona Fecarotta; Marianna Alagia; Federica Attaianese; Alessandra Verde; Antonietta Tarallo; Vincenza Gragnaniello; Athanasia Ziagaki; Maria Jose’ Guimaraes; Patricio Aguiar; Andreas Hahn; Olga Azevedo; Maria Alice Donati; Beata Kiec Wilk; Maurizio Scarpa; Nadine M E van der Beek; Mireja Del Toro Riera; Dominique Germain; Hidde Huidekoper; Johanna P van den Hout; ...More
PUBLISHED: 2024, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 19, ISSUE: 1
8
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 | CIÊNCIAVITAE9
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
10
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
