Publicacións (265) Publicacións nas que participase algún/ha investigador/a

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

  2. Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study

    The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944

  3. Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory

    Tobacco Induced Diseases, Vol. 22

  4. Effect of β-Estradiol on Adipogenesis in a 3T3-L1 Cell Model of Prelamin A Accumulation

    International Journal of Molecular Sciences, Vol. 25, Núm. 2

  5. 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

  6. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28–29 September 2023

    Annales d'Endocrinologie

  7. Special Issue “Diagnosis and Treatment of Rare Diseases”

    Journal of Clinical Medicine

  8. Vascular Calcification: A Passive Process That Requires Active Inhibition

    Biology, Vol. 13, Núm. 2

2023

  1. A Mass Spectrometry-Based Method of Quantifying the Contribution of the Lysine Polymorphism at Position 171 in Sheep PrP

    Journal of the American Society for Mass Spectrometry, Vol. 34, Núm. 2, pp. 245-254

  2. A murine model of BSCL2-associated Celia's encephalopathy

    Neurobiology of Disease, Vol. 187

  3. A tetracationic porphyrin with dual anti-prion activity

    iScience, Vol. 26, Núm. 9

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

    Antioxidants, Vol. 12, Núm. 4

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

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

  6. Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy

    Diabetes, Vol. 72, Núm. 1, pp. 71-84

  7. Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study

    Journal of Clinical Medicine, Vol. 12, Núm. 23

  8. Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review

    Cells, Vol. 12, Núm. 5

  9. Erratum: A tetracationic porphyrin with dual anti-prion activity (iScience (2023) 26(9), (S2589004223015572), (10.1016/j.isci.2023.107480))

    iScience

  10. 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

  11. 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

  12. Hepatic levels of S-adenosylmethionine regulate the adaptive response to fasting

    Cell Metabolism, Vol. 35, Núm. 8, pp. 1373-1389.e8