Publicacións nas que colabora con Alvaro Hermida Ameijeiras (8)

2024

  1. 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

2018

  1. Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis

    Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21

2017

  1. Arterial stiffness assessment in patients with phenylketonuria

    Medicine (United States), Vol. 96, Núm. 51

2016

  1. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

    Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7