PatMol-DR
Patoloxía Molecular das Doenzas Raras
Publicacións (261) Publicacións nas que participase algún/ha investigador/a
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
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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
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Effect of an intensive tobacco cessation program on the smoker narrative: A content analysis and grounded theory
Tobacco Induced Diseases, Vol. 22
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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
2023
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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
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A murine model of BSCL2-associated Celia's encephalopathy
Neurobiology of Disease, Vol. 187
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A tetracationic porphyrin with dual anti-prion activity
iScience, Vol. 26, Núm. 9
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Assessment of Oxidative Stress Markers in Hypertensive Patients under the Use of Renin-Angiotensin-Aldosterone Blockers
Antioxidants, Vol. 12, Núm. 4
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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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Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy
Diabetes, Vol. 72, Núm. 1, pp. 71-84
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Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study
Journal of Clinical Medicine, Vol. 12, Núm. 23
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Clinical Spectrum of LMNA-Associated Type 2 Familial Partial Lipodystrophy: A Systematic Review
Cells, Vol. 12, Núm. 5
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Erratum: A tetracationic porphyrin with dual anti-prion activity (iScience (2023) 26(9), (S2589004223015572), (10.1016/j.isci.2023.107480))
iScience
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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
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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
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Hepatic levels of S-adenosylmethionine regulate the adaptive response to fasting
Cell Metabolism, Vol. 35, Núm. 8, pp. 1373-1389.e8
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Implications of Inflammatory and Oxidative Stress Markers in the Attenuation of Nocturnal Blood Pressure Dipping
Journal of Clinical Medicine, Vol. 12, Núm. 4
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Increased musculature: A warning sign of familial partial lipodystrophy
Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 4, pp. 290-292
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Natural history and comorbidities of generalised and partial lipodystrophy syndromes in Spain
Frontiers in Endocrinology, Vol. 14
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Prevalence of Hyperuricemia and Its Association with Cardiovascular Risk Factors and Subclinical Target Organ Damage
Journal of Clinical Medicine, Vol. 12, Núm. 1