Researcher
Sofia Barbosa-Gouveia
Instituto de Investigación Sanitaria de Santiago
Statistics
22 papers found
All papers authored by Sofia Barbosa-Gouveia
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2024
Laura López-Valverde,
María E. Vázquez-Mosquera,
Cristóbal Colón-Mejeras,
Susana B. Bravo,
Sofía Barbosa-Gouveia 
,
J. Víctor Álvarez,
Rosario Sánchez-Martínez,
Manuel López-Mendoza,
Mónica López-Rodríguez,
Eduardo Villacorta-Argüelles,
María A. Goicoechea-Diezhandino,
Francisco J. Guerrero-Márquez,
Saida Ortolano,
Elisa Leao-Teles,
Álvaro Hermida-Ameijeiras
and 1 other authors
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,
J. Víctor Álvarez,
Rosario Sánchez-Martínez,
Manuel López-Mendoza,
Mónica López-Rodríguez,
Eduardo Villacorta-Argüelles,
María A. Goicoechea-Diezhandino,
Francisco J. Guerrero-Márquez,
Saida Ortolano,
Elisa Leao-Teles,
Álvaro Hermida-Ameijeiras
and 1 other authors
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2023
Sofía Barbosa-Gouveia ,
Silvia Fernández-Crespo,
Héctor Lazaré-Iglesias,
Arturo González-Quintela,
Néstor Vázquez-Agra ,
Álvaro Hermida-Ameijeiras
,
Silvia Fernández-Crespo,
Héctor Lazaré-Iglesias,
Arturo González-Quintela,
Néstor Vázquez-Agra ,
Álvaro Hermida-Ameijeiras
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
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2022
Maria del Pilar Chantada-Vázquez ,
Susana B. Bravo ,
Sofía Barbosa-Gouveia ,
José V. Alvarez ,
María L. Couce
,
Susana B. Bravo ,
Sofía Barbosa-Gouveia ,
José V. Alvarez ,
María L. Couce
Proteomics in Inherited Metabolic Disorders
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Sílvia Santos Monteiro,
Silvia Santos Monteiro ,
Tiago da Silva Santos,
Tiago da Silva Santos,
Liliana Fonseca,
Tiago S. Santos,
Ana M. Lopes,
Guilherme Assunção,
Diana B. Duarte,
Ana Rita Soares,
Francisco Laranjeira,
Isaura Ribeiro,
Eugénia Pinto,
Sónia Rocha,
Sofia Barbosa Gouveia
and 5 other authors
,
Tiago da Silva Santos,
Tiago da Silva Santos,
Liliana Fonseca,
Tiago S. Santos,
Ana M. Lopes,
Guilherme Assunção,
Diana B. Duarte,
Ana Rita Soares,
Francisco Laranjeira,
Isaura Ribeiro,
Eugénia Pinto,
Sónia Rocha,
Sofia Barbosa Gouveia
and 5 other authors
Maturity-onset diabetes of the young in a large Portuguese cohort
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Sofia Barbosa-Gouveia ,
Maria Eugenia Vázquez-Mosquera ,
Emiliano González-Vioque,
Álvaro Hermida-Ameijeiras ,
Paula Sánchez-Pintos ,
Maria José de Castro,
Soraya Ramiro León,
Belén Gil-Fournier,
Cristina Domínguez-González ,
Ana Camacho Salas,
Luis Negrão,
Isabel Fineza,
Francisco Laranjeira,
Maria Luz Couce
Download from doi.org
,
Maria Eugenia Vázquez-Mosquera ,
Emiliano González-Vioque,
Álvaro Hermida-Ameijeiras ,
Paula Sánchez-Pintos ,
Maria José de Castro,
Soraya Ramiro León,
Belén Gil-Fournier,
Cristina Domínguez-González ,
Ana Camacho Salas,
Luis Negrão,
Isabel Fineza,
Francisco Laranjeira,
Maria Luz Couce
Download from doi.org
María E. Vázquez-Mosquera,
Emiliano González-Vioque,
Sofía Barbosa-Gouveia ,
Diego Bellido-Guerrero,
Cristina Tejera-Pérez,
Miguel A. Martinez-Olmos,
Antía Fernández-Pombo,
Luis A. Castaño-González,
Roi Chans-Gerpe,
María L. Couce
Download from link.springer.com
,
Diego Bellido-Guerrero,
Cristina Tejera-Pérez,
Miguel A. Martinez-Olmos,
Antía Fernández-Pombo,
Luis A. Castaño-González,
Roi Chans-Gerpe,
María L. Couce
Download from link.springer.com
2021
Sofia Barbosa-Gouveia ,
Maria E. Vázquez-Mosquera ,
Emiliano Gonzalez-Vioque,
Álvaro Hermida-Ameijeiras ,
Laura L. Valverde ,
Judith Armstrong-Moron ,
Maria del Carmen Fons-Estupiña,
Liesbeth T. Wintjes ,
Antonia Kappen ,
Richard J. Rodenburg ,
Maria L. Couce
Download from doi.org
,
Maria E. Vázquez-Mosquera ,
Emiliano Gonzalez-Vioque,
Álvaro Hermida-Ameijeiras ,
Laura L. Valverde ,
Judith Armstrong-Moron ,
Maria del Carmen Fons-Estupiña,
Liesbeth T. Wintjes ,
Antonia Kappen ,
Richard J. Rodenburg ,
Maria L. Couce
Download from doi.org
Fábio Carneiro,
Júlia Duarte,
Francisco Laranjeira,
Sofia Barbosa-Gouveia ,
María-Luz Couce,
Maria José Fonseca
,
María-Luz Couce,
Maria José Fonseca
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant
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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
Download from doi.org
,
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
Download from doi.org
José V. Álvarez ,
Susana B. Bravo ,
María Pilar Chantada-Vázquez,
Sofía Barbosa-Gouveia ,
Cristóbal Colón ,
Olalla López-Suarez,
Shunji Tomatsu ,
Francisco J. Otero-Espinar ,
María L. Couce
,
Susana B. Bravo ,
María Pilar Chantada-Vázquez,
Sofía Barbosa-Gouveia ,
Cristóbal Colón ,
Olalla López-Suarez,
Shunji Tomatsu ,
Francisco J. Otero-Espinar ,
María L. Couce
Plasma Proteomic Analysis in Morquio A Disease
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2020
Sofia Barbosa-Gouveia ,
Emiliano González-Vioque,
Álvaro Hermida,
María Unceta Suarez,
María Jesús Martínez-González,
Filipa Borges ,
Liesbeth Wintjes,
Antonia Kappen ,
Richard Rodenburg ,
María-Luz Couce
Download from doi.org
,
Emiliano González-Vioque,
Álvaro Hermida,
María Unceta Suarez,
María Jesús Martínez-González,
Filipa Borges ,
Liesbeth Wintjes,
Antonia Kappen ,
Richard Rodenburg ,
María-Luz Couce
Download from doi.org
María José de Castro,
Emiliano González-Vioque,
Sofía Barbosa-Gouveia ,
Enrique Salguero,
Segundo Rite ,
Olalla López-Suárez,
Alejandro Pérez-Muñuzuri,
María-Luz Couce
Download from doi.org
,
Enrique Salguero,
Segundo Rite ,
Olalla López-Suárez,
Alejandro Pérez-Muñuzuri,
María-Luz Couce
Download from doi.org
2019
Sofia Barbosa-Gouveia ,
Emiliano González-Vioque,
Filipa Borges ,
Luis Gutiérrez-Solana,
Liesbeth Wintjes,
Antonia Kappen ,
Lambert van den Heuvel,
Rosaura Leis ,
Richard Rodenburg ,
María Luz Couce
Download from doi.org
,
Emiliano González-Vioque,
Filipa Borges ,
Luis Gutiérrez-Solana,
Liesbeth Wintjes,
Antonia Kappen ,
Lambert van den Heuvel,
Rosaura Leis ,
Richard Rodenburg ,
María Luz Couce
Download from doi.org
D. Sean Froese ,
Martina Huemer,
Daria Diodato,
Andrew A. Morris,
C. Alcalde Martin,
Diego Martinelli,
Stefan Koelker,
D. Sean Froese,
Matthias R. Baumgartner,
Giorgia Olivieri,
Carlos Alcalde Martin,
Martina Baethmann,
Henk Blom,
Diana Ballhausen,
Nikolas Boy
and 55 other authors
Download from api.wiley.com
,
Martina Huemer,
Daria Diodato,
Andrew A. Morris,
C. Alcalde Martin,
Diego Martinelli,
Stefan Koelker,
D. Sean Froese,
Matthias R. Baumgartner,
Giorgia Olivieri,
Carlos Alcalde Martin,
Martina Baethmann,
Henk Blom,
Diana Ballhausen,
Nikolas Boy
and 55 other authors
Download from api.wiley.com
Rebecca Keller,
Petr Chrastina,
Markéta Pavlíková,
Sofía Gouveia ,
Henk J. Blom,
Stefan Koelker,
Matthias R. Baumgartner,
Antonia Ribes,
Carlo Dionisi‐Vici,
Josef Bartl,
Andrew A. Morris,
Stefan Kölker,
Martina Huemer,
Tawfeq Ben‐Omran,
Ivo Barić
and 50 other authors
,
Henk J. Blom,
Stefan Koelker,
Matthias R. Baumgartner,
Antonia Ribes,
Carlo Dionisi‐Vici,
Josef Bartl,
Andrew A. Morris,
Stefan Kölker,
Martina Huemer,
Tawfeq Ben‐Omran,
Ivo Barić
and 50 other authors
Newborn screening for homocystinurias: Recent recommendations versus current practice
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Ana Fernandez-Marmiesse,
Sofia Gouveia ,
Maria L. Couce
,
Maria L. Couce
NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment
Download from europepmc.orgMissing publications? Search for publications with a matching author name.