Sofía Gouveia

7PUBLICATIONS
19CO-AUTHORS
NeurogeneticsGene mappingImmunogenetics (incl. genetic immunology)Gene expression (incl. microarray and other genome-wide approaches)Medical biochemistry - lipids
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Publications (7)

|Oct 08, 2026
The NBGENS project protocol: Pilot study for genetic newborn screening in Galicia.

|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

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Frequent Collaborators

6 joint publications

María-Luz Couce

3 joint publications

Álvaro Hermida-Ameijeiras

2 joint publications

Antonia Kappen

2 joint publications

Richard Rodenburg