Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (48)

2025

  1. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency and type 2 diabetes mellitus presenting in adulthood

    Medicina Clinica

  2. Assessing the relationship between short-term blood pressure variability and glycation profile in young and middle-aged nondiabetic hypertensive individuals

    Journal of Hypertension, Vol. 43, Núm. 7, pp. 1148-1157

  3. Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing

    Neurobiology of Disease, Vol. 209

  4. Evaluating an Early Risk Model for Uncomplicated Hypertension in Pregnancy Based on Nighttime Blood Pressure, Uric Acid, and Angiogenesis-Related Factors

    International Journal of Molecular Sciences, Vol. 26, Núm. 13

  5. Impact of a Transition Clinic on Long-Term Care and Nutritional Management in Patients with Inborn Errors of Metabolism

    Nutrients , Vol. 17, Núm. 20

  6. Is there new hope for rare diseases?

    Medicina Clinica

  7. The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria

    BMC Health Services Research, Vol. 25, Núm. 1

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

  3. Nutrient Status and Intakes of Adults with Phenylketonuria

    Nutrients , Vol. 16, Núm. 16

  4. Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease

    International journal of molecular sciences, Vol. 25, Núm. 8

  5. True-resistant hypertension and serum fibrinogen; much more than a marriage of convenience?

    Journal of Human Hypertension

  6. Urate Levels as a Predictor of the Prevalence and Level of Cardiovascular Risk Factors: An Identificación de La PoBlación Española de Riesgo Cardiovascular y Renal Study

    Biomolecules, Vol. 14, Núm. 12

2023

  1. Assessment of Oxidative Stress Markers in Hypertensive Patients under the Use of Renin-Angiotensin-Aldosterone Blockers

    Antioxidants, Vol. 12, Núm. 4

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

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

  3. Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

    Nutrients, Vol. 15, Núm. 18

  4. Health-related quality of life in a european sample of adults with early-treated classical PKU

    Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1

  5. Implications of Inflammatory and Oxidative Stress Markers in the Attenuation of Nocturnal Blood Pressure Dipping

    Journal of Clinical Medicine, Vol. 12, Núm. 4

  6. Prevalence of Hyperuricemia and Its Association with Cardiovascular Risk Factors and Subclinical Target Organ Damage

    Journal of Clinical Medicine, Vol. 12, Núm. 1

  7. Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review

    Frontiers in Endocrinology, Vol. 14