Sofia Barbosa-Gouveia
6PUBLICATIONS
17CO-AUTHORS
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Publications (6)
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|Apr 13, 2023
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.Sofía Barbosa-Gouveia, Silvia Fernández-Crespo, Héctor Lazaré-Iglesias
|Dec 11, 2022
Proteomics in Inherited Metabolic Disorders.Maria Del Pilar Chantada-Vázquez, Susana B Bravo, Sofía Barbosa-Gouveia
|May 28, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.Sofia Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano González-Vioque
|Dec 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque
|Aug 27, 2021
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.Sofia Barbosa-Gouveia, María E Vázquez-Mosquera, Emiliano González-Vioque
|Sep 05, 2020
Identification of a Novel Variant in EARS2 Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.Sofia Barbosa-Gouveia, Emiliano González-Vioque, Álvaro Hermida
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Frequent Collaborators
5 joint publications
María-Luz Couce
3 joint publications
Álvaro Hermida-Ameijeiras
2 joint publications
Antonia Kappen
2 joint publications
Richard Rodenburg
2 joint publications
José V Álvarez
2 joint publications
Maria Eugenia Vázquez-Mosquera
1 joint publications
Filipa Borges
1 joint publications
Roi Chans
1 joint publications
Alejandro Avila-Alvarez
1 joint publications
Laura L Valverde
