ALVARO
HERMIDA AMEIJEIRAS
Profesor contratado doctor
Sofia Isabel
Barbosa Gouveia
Publicaciones en las que colabora con Sofia Isabel Barbosa Gouveia (5)
2024
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
Translational Research, Vol. 269, pp. 47-63
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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Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies
Journal of Clinical Medicine, Vol. 11, Núm. 10
2021
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Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome
International Journal of Molecular Sciences, Vol. 22, Núm. 24