Works by Martins, Esmeralda

Results: 35
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    Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.

    Published in:
    2020
    By:
    • Pavlu-Pereira, Hana;
    • Silva, Maria João;
    • Florindo, Cristina;
    • Sequeira, Sílvia;
    • Ferreira, Ana Cristina;
    • Duarte, Sofia;
    • Rodrigues, Ana Luísa;
    • Janeiro, Patrícia;
    • Oliveira, Anabela;
    • Gomes, Daniel;
    • Bandeira, Anabela;
    • Martins, Esmeralda;
    • Gomes, Roseli;
    • Soares, Sérgia;
    • Tavares de Almeida, Isabel;
    • Vicente, João B.;
    • Rivera, Isabel
    Publication type:
    journal article
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    Leukocyte Imbalances in Mucopolysaccharidoses Patients.

    Published in:
    Biomedicines, 2023, v. 11, n. 6, p. 1699, doi. 10.3390/biomedicines11061699
    By:
    • Lopes, Nuno;
    • Maia, Maria L.;
    • Pereira, Cátia S.;
    • Mondragão-Rodrigues, Inês;
    • Martins, Esmeralda;
    • Ribeiro, Rosa;
    • Gaspar, Ana;
    • Aguiar, Patrício;
    • Garcia, Paula;
    • Cardoso, Maria Teresa;
    • Rodrigues, Esmeralda;
    • Leão-Teles, Elisa;
    • Giugliani, Roberto;
    • Coutinho, Maria F.;
    • Alves, Sandra;
    • Macedo, M. Fátima
    Publication type:
    Article
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    MAN1B1 Deficiency: An Unexpected CDG-II.

    Published in:
    PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1003989
    By:
    • Rymen, Daisy;
    • Peanne, Romain;
    • Millón, María B.;
    • Race, Valérie;
    • Sturiale, Luisa;
    • Garozzo, Domenico;
    • Mills, Philippa;
    • Clayton, Peter;
    • Asteggiano, Carla G.;
    • Quelhas, Dulce;
    • Cansu, Ali;
    • Martins, Esmeralda;
    • Nassogne, Marie-Cécile;
    • Gonçalves-Rocha, Miguel;
    • Topaloglu, Haluk;
    • Jaeken, Jaak;
    • Foulquier, François;
    • Matthijs, Gert
    Publication type:
    Article
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    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.

    Published in:
    International Journal of Molecular Sciences, 2024, v. 25, n. 6, p. 3546, doi. 10.3390/ijms25063546
    By:
    • Carvalho, Sofia;
    • Santos, Juliana Inês;
    • Moreira, Luciana;
    • Duarte, Ana Joana;
    • Gaspar, Paulo;
    • Rocha, Hugo;
    • Encarnação, Marisa;
    • Ribeiro, Diogo;
    • Barbosa Almeida, Matilde;
    • Gonçalves, Mariana;
    • David, Hugo;
    • Matos, Liliana;
    • Amaral, Olga;
    • Diogo, Luísa;
    • Ferreira, Sara;
    • Santos, Constança;
    • Martins, Esmeralda;
    • Prata, Maria João;
    • Pereira de Almeida, Luís;
    • Alves, Sandra
    Publication type:
    Article
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    Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-102
    By:
    • Couce, Maria Luz;
    • Sánchez-Pintos, Paula;
    • Diogo, Luisa;
    • Leão-Teles, Elisa;
    • Martins, Esmeralda;
    • Santos, Helena;
    • Bueno, Maria Amor;
    • Delgado-Pecellín, Carmen;
    • Castiñeiras, Daisy E.;
    • Cocho, José A.;
    • García-Villoria, Judit;
    • Ribes, Antonia;
    • Fraga, José M.;
    • Rocha, Hugo
    Publication type:
    Article
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    Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 671, doi. 10.1002/jimd.12241
    By:
    • Čechová, Anna;
    • Altassan, Ruqaiah;
    • Borgel, Delphine;
    • Bruneel, Arnaud;
    • Correia, Joana;
    • Girard, Muriel;
    • Harroche, Annie;
    • Kiec‐Wilk, Beata;
    • Mohnike, Klaus;
    • Pascreau, Tiffany;
    • Pawliński, Łukasz;
    • Radenkovic, Silvia;
    • Vuillaumier‐Barrot, Sandrine;
    • Aldamiz‐Echevarria, Luis;
    • Couce, Maria Luz;
    • Martins, Esmeralda G.;
    • Quelhas, Dulce;
    • Morava, Eva;
    • Lonlay, Pascale;
    • Witters, Peter
    Publication type:
    Article
    19

    Clinical presentation and outcome in a series of 88 patients with the cblC defect.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
    By:
    • Fischer, Sabine;
    • Huemer, Martina;
    • Baumgartner, Matthias;
    • Deodato, Federica;
    • Ballhausen, Diana;
    • Boneh, Avihu;
    • Burlina, Alberto;
    • Cerone, Roberto;
    • Garcia, Paula;
    • Gökçay, Gülden;
    • Grünewald, Stephanie;
    • Häberle, Johannes;
    • Jaeken, Jaak;
    • Ketteridge, David;
    • Lindner, Martin;
    • Mandel, Hanna;
    • Martinelli, Diego;
    • Martins, Esmeralda;
    • Schwab, Karl;
    • Gruenert, Sarah
    Publication type:
    Article
    20

    A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 43, doi. 10.1007/s10545-013-9623-1
    By:
    • Coelho, Ana;
    • Ramos, Ruben;
    • Gaspar, Ana;
    • Costa, Cláudia;
    • Oliveira, Anabela;
    • Diogo, Luísa;
    • Garcia, Paula;
    • Paiva, Sandra;
    • Martins, Esmeralda;
    • Teles, Elisa;
    • Rodrigues, Esmeralda;
    • Cardoso, M.;
    • Ferreira, Elena;
    • Sequeira, Sílvia;
    • Leite, Margarida;
    • Silva, Maria;
    • Almeida, Isabel;
    • Vicente, João;
    • Rivera, Isabel
    Publication type:
    Article
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    Lipid Antigen Presentation by CD1b and CD1d in Lysosomal Storage Disease Patients.

    Published in:
    Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01264
    By:
    • Pereira, Catia S.;
    • Pérez-Cabezas, Begoña;
    • Ribeiro, Helena;
    • Maia, M. Luz;
    • Cardoso, M. Teresa;
    • Dias, Ana F.;
    • Azevedo, Olga;
    • Ferreira, M. Fatima;
    • Garcia, Paula;
    • Rodrigues, Esmeralda;
    • Castro-Chaves, Paulo;
    • Martins, Esmeralda;
    • Aguiar, Patricio;
    • Pineda, Mercè;
    • Amraoui, Yasmina;
    • Fecarotta, Simona;
    • Leão-Teles, Elisa;
    • Deng, Shenglou;
    • Savage, Paul B.;
    • Macedo, M. Fatima
    Publication type:
    Article
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    Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG.

    Published in:
    Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8813121
    By:
    • Pajusalu, Sander;
    • Vals, Mari-Anne;
    • Serrano, Mercedes;
    • Witters, Peter;
    • Cechova, Anna;
    • Honzik, Tomáš;
    • Edmondson, Andrew C.;
    • Ficicioglu, Can;
    • Barone, Rita;
    • De Lonlay, Pascale;
    • Bérat, 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
    Publication type:
    Article
    35

    Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses.

    Published in:
    Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 3, p. 1, doi. 10.1002/mgg3.1559
    By:
    • Ferreira, Filipa;
    • Azevedo, Luísa;
    • Neiva, Raquel;
    • Sousa, Carmen;
    • Fonseca, Helena;
    • Marcão, Ana;
    • Rocha, Hugo;
    • Carmona, Célia;
    • Ramos, Sónia;
    • Bandeira, Anabela;
    • Martins, Esmeralda;
    • Campos, Teresa;
    • Rodrigues, Esmeralda;
    • Garcia, Paula;
    • Diogo, Luísa;
    • Ferreira, Ana Cristina;
    • Sequeira, Silvia;
    • Silva, Francisco;
    • Rodrigues, Luísa;
    • Gaspar, Ana
    Publication type:
    Article