Publicacións nas que colabora con Sofia Isabel Barbosa Gouveia (6)

2024

  1. 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

  2. Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers

    Translational Research, Vol. 269, pp. 47-63

2023

  1. Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease

    Journal of Clinical Medicine, Vol. 12, Núm. 7

  2. 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

  1. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

    Journal of Clinical Medicine, Vol. 11, Núm. 10

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24