Sofía
Barbosa Gouveia
Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (6)
2024
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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up
Orphanet Journal of Rare Diseases, Vol. 19, Núm. 1
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Assessing the relationship between lipoprotein(a) levels and blood pressure among hypertensive patients beyond conventional measures. An observational study
Scientific Reports, Vol. 14, Núm. 1
2023
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Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
Journal of Clinical Medicine, Vol. 12, Núm. 7
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The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria
Medicina Clinica, Vol. 160, Núm. 9, pp. 385-391
2022
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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
2014
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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