Showing 1 - 8 results of 8 for search 'Esmeralda Martins', query time: 0.04s
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Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants by Marisa Encarnação, Maria Francisca Coutinho, Lisbeth Silva, Diogo Ribeiro, Souad Ouesleti, Teresa Campos, Helena Santos, Esmeralda Martins, Maria Teresa Cardoso, Laura Vilarinho, Sandra Alves
Published 2020-09-01
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Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team by Maria Peres, Manuela F. Almeida, Élia J. Pinto, Carla Carmona, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Esmeralda Martins, Anabela Bandeira, Anita MacDonald, Júlio C. Rocha
Published 2021-02-01
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Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center by 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 2021-08-01
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Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations by Viviane Kanufre, Manuela Ferreira Almeida, Catarina Sousa Barbosa, Carla Carmona, Anabela Bandeira, Esmeralda Martins, Sara Rocha, Arlindo Guimas, Rosa Ribeiro, Anita MacDonald, Alex Pinto, Júlio César Rocha
Published 2021-09-01
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Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic Era by Manuela Schubert Baldo, Célia Nogueira, Cristina Pereira, Patrícia Janeiro, Sara Ferreira, Charles M. Lourenço, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho
Published 2023-07-01
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P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) by Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
Published 2024-01-01
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Leukocyte Imbalances in Mucopolysaccharidoses Patients by Nuno Lopes, Maria L. Maia, Cátia S. Pereira, Inês Mondragão-Rodrigues, Esmeralda Martins, Rosa Ribeiro, Ana Gaspar, Patrício Aguiar, Paula Garcia, Maria Teresa Cardoso, Esmeralda Rodrigues, Elisa Leão-Teles, Roberto Giugliani, Maria F. Coutinho, Sandra Alves, M. Fátima Macedo
Published 2023-06-01
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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... by Sofia Carvalho, Juliana Inês Santos, Luciana Moreira, Ana Joana Duarte, Paulo Gaspar, Hugo Rocha, Marisa Encarnação, Diogo Ribeiro, Matilde Barbosa Almeida, Mariana Gonçalves, Hugo David, Liliana Matos, Olga Amaral, Luísa Diogo, Sara Ferreira, Constança Santos, Esmeralda Martins, Maria João Prata, Luís Pereira de Almeida, Sandra Alves, Maria Francisca Coutinho
Published 2024-03-01
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