Sofía
Barbosa Gouveia
Complexo Hospitalario Universitario de Santiago
Santiago de Compostela, EspañaPublications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (12)
2023
-
Maturity-onset diabetes of the young in a large Portuguese cohort
Acta Diabetologica, Vol. 60, Núm. 1, pp. 83-91
2022
-
Proteomics in Inherited Metabolic Disorders
International Journal of Molecular Sciences, Vol. 23, Núm. 23
-
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
-
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105
2021
-
Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome
International Journal of Molecular Sciences, Vol. 22, Núm. 24
2019
-
Newborn screening for homocystinurias: Recent recommendations versus current practice
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 1, pp. 128-139
-
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry
Journal of Inherited Metabolic Disease, Vol. 42, Núm. 2, pp. 333-352
2018
-
Ngs technologies as a turning point in rare disease resea rch , diagnosis and treatment
Current Medicinal Chemistry, Vol. 25, Núm. 3, pp. 404-432
-
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Journal of Inherited Metabolic Disease
-
Prioritization of variants detected by next generation sequencing according to the mutation tolerance and mutational architecture of the corresponding genes
International Journal of Molecular Sciences, Vol. 19, Núm. 6
2017
-
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
Neuromuscular Disorders, Vol. 27, Núm. 2, pp. 188-192
2014
-
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1