Patoloxía Molecular das Doenzas Raras
PatMol-DR
Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición
Madrid, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (23)
2024
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A cohort analysis of familial partial lipodystrophy from two Mediterranean countries
Diabetes, Obesity and Metabolism, Vol. 26, Núm. 11, pp. 4875-4886
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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
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Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes
International Journal of Molecular Sciences, Vol. 25, Núm. 17
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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
2023
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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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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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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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Should we suspect primary aldosteronism in patients with hypokalaemic rhabdomyolysis? A systematic review
Frontiers in Endocrinology, Vol. 14
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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
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The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations
Journal of investigative medicine : the official publication of the American Federation for Clinical Research, Vol. 71, Núm. 2, pp. 149-158
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The value of waist circumference as a preditor of cardiovascular risk in adult patients with classic phenylketonuria
Medicina Clinica, Vol. 161, Núm. 11, pp. 470-475
2022
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Lipodystrophy-associated progeroid syndromes
Hormones, Vol. 21, Núm. 4, pp. 555-571
2021
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Lipid lowering treatment in patients with very high risk cardiovascular disease. Spanish Society of Cardiology Consensus Document for the use of PCSK9 inhibitors in clinical practice
REC: CardioClinics, Vol. 56, Núm. 1, pp. 39-48
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Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant
Journal of Clinical Medicine, Vol. 10, Núm. 7
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Variable expressivity in type 2 familial partial lipodystrophy related to r482 and n466 variants in the lmna gene
Journal of Clinical Medicine, Vol. 10, Núm. 6, pp. 1-9
2020
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Inflammatory and lipid regulation by cholinergic activity in epicardial stromal cells from patients who underwent open-heart surgery
Journal of Cellular and Molecular Medicine, Vol. 24, Núm. 18, pp. 10958-10969
2018
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Bone mineral density in familial partial lipodystrophy
Clinical Endocrinology, Vol. 88, Núm. 1, pp. 44-50
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Inflammatory myopathy in the context of an unusual overlapping laminopathy
Archives of Endocrinology and Metabolism, Vol. 62, Núm. 3, pp. 376-382