Works by Rodrigues, Esmeralda

Results: 17

Hyperammonaemic encephalopathy in a teenage girl.

Published in:

Journal of Paediatrics & Child Health, 2022, v. 58, n. 7, p. 1270, doi. 10.1111/jpc.15824

By:

Magalhães, Tiago;
Campos, Teresa;
Rodrigues, Esmeralda;
Vasconcelos, Carla;
Fontoura, Manuel;
Vilarinho, Laura;
Leão‐Teles, Elisa

Publication type:

Article

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

Role of RNA in Molecular Diagnosis of MADD Patients.

Published in:

Biomedicines, 2021, v. 9, n. 5, p. 507, doi. 10.3390/biomedicines9050507

By:

Nogueira, Célia;
Silva, Lisbeth;
Marcão, Ana;
Sousa, Carmen;
Fonseca, Helena;
Rocha, Hugo;
Campos, Teresa;
Teles, Elisa Leão;
Rodrigues, Esmeralda;
Janeiro, Patrícia;
Gaspar, Ana;
Vilarinho, Laura;
Ceci, Francesco

Publication type:

Article

Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era.

Published in:

Genes, 2023, v. 14, n. 8, p. 1536, doi. 10.3390/genes14081536

By:

Baldo, Manuela Schubert;
Nogueira, Célia;
Pereira, Cristina;
Janeiro, Patrícia;
Ferreira, Sara;
Lourenço, Charles M.;
Bandeira, Anabela;
Martins, Esmeralda;
Magalhães, Marina;
Rodrigues, Esmeralda;
Santos, Helena;
Ferreira, Ana Cristina;
Vilarinho, Laura

Publication type:

Article

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

Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 835, doi. 10.1007/s10545-011-9287-7

By:

Martins, Esmeralda;
Cardoso, M.;
Rodrigues, Esmeralda;
Barbot, Clara;
Ramos, Altina;
Bennett, Michael;
Teles, Elisa;
Vilarinho, Laura

Publication type:

Article

Novel MTO1 mutations associated with an intrafamilial phenotypic variability.

Published in:

Egyptian Journal of Medical Human Genetics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s43042-023-00387-0

By:

Almeida, Catarina Maria;
Rodrigues, Esmeralda;
Campos, Teresa Almeida;
Vilarinho, Laura;
Teles, Elisa Leão

Publication type:

Article

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1311, doi. 10.1002/ajmg.a.62636

By:

Quental, Rita;
Gonçalves, Daniel;
Rodrigues, Esmeralda;
Serrano Gonçalves, Edite;
Oliveira, Jorge;
Parente Freixo, João;
Leão, Miguel

Publication type:

Article

1647: OVERVIEW OF PAEDIATRIC DILATED CARDIOMYOPATHY IN A TERTIARY HOSPITAL.

Published in:

Cardiovascular Journal of Africa, 2013, v. 24, n. 1, p. 256

By:

Miranda, Joana;
Rodrigues, Esmeralda;
Vaz, Teresa;
Teles, Elisa Leão;
Baptista, Maria João

Publication type:

Article

Liver dysfunction and hypoglycaemia as presentations of hypopituitarism in a child.

Published in:

Polish Journal of Endocrinology / Endokrynologia Polska, 2021, v. 72, n. 6, p. 672, doi. 10.5603/EP.a2021.0079

By:

Fonseca, Sara;
Magalhães, Tiago;
Teixeira, Beatriz;
Lisboa, Lurdes;
Rodrigues, Esmeralda;
Trindade, Eunice;
Ferreira, Sofia;
Costa, Carla;
Castro-Correia, Cíntia

Publication type:

Article

Visual impairment in mucopolysaccharidosis VI.

Published in:

Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 2, p. 129, doi. 10.1002/jmd2.12351

By:

Magalhães, Augusto Monteiro;
Moleiro, Ana Filipa;
Rodrigues, Esmeralda;
Castro, Sérgio;
Fonseca, José;
Leão‐Teles, Elisa

Publication type:

Article

SLC37A4‐CDG: Second patient.

Published in:

Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 122, doi. 10.1002/jmd2.12195

By:

Wilson, Matthew P.;
Quelhas, Dulce;
Leão‐Teles, Elisa;
Sturiale, Luisa;
Rymen, Daisy;
Keldermans, Liesbeth;
Race, Valérie;
Souche, Erika;
Rodrigues, Esmeralda;
Campos, Teresa;
Van Schaftingen, Emile;
Foulquier, François;
Garozzo, Domenico;
Matthijs, Gert;
Jaeken, Jaak

Publication type:

Article

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

Novani Brindes - Novo Público, Nova Estratégia De Marketing Digital.

Published in:

Administração: Ensino e Pesquisa, 2024, v. 25, n. 2, p. 149, doi. 10.13058/raep.2024.v25n2.2465

By:

Hott Corrêa, Stela Cristina;
Santos, Naiara de Oliveira;
da Silva, Roberta Soares;
Rodrigues Miguel, Karen Esmeralda

Publication type:

Article

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

Macular Changes in a Mucopolysaccharidosis Type I Patient with Earlier Systemic Therapies.

Published in:

Case Reports in Ophthalmological Medicine, 2021, p. 1, doi. 10.1155/2021/8866837

By:

Magalhães, Augusto;
Cunha, Ana Maria;
Vilares-Morgado, Rodrigo;
Leão-Teles, Elisa;
Rodrigues, Esmeralda;
Falcão, Manuel;
Carneiro, Ângela;
Breda, Jorge;
Falcão-Reis, Fernando

Publication type:

Article

Paediatric dilated cardiomyopathy: clinical profile and outcome. The experience of a tertiary centre for paediatric cardiology.

Published in:

Cardiology in the Young, 2015, v. 25, n. 2, p. 333, doi. 10.1017/S1047951113002369

By:

Miranda, Joana O.;
Costa, Liane;
Rodrigues, Esmeralda;
Teles, Elisa L.;
Baptista, Maria J.;
Areias, José C.

Publication type:

Article