Antía
Fernández Pombo
![Foto de Antía](/img/nophoto.png)
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Universidade de Santiago de Compostela
Santiago de Compostela, EspañaPublicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (26)
2024
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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 murine model of BSCL2-associated Celia's encephalopathy
Neurobiology of Disease, Vol. 187
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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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GALIPDIA study: Reaching lipid targets in a population with type 2 diabetes (T2DM) from the Northwest of Spain
Endocrinologia, Diabetes y Nutricion, Vol. 70, Núm. 1, pp. 29-38
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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
2022
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Lipodystrophy-associated progeroid syndromes
Hormones, Vol. 21, Núm. 4, pp. 555-571
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Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7–8 April 2022
Annales d'Endocrinologie
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Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis
Orphanet journal of rare diseases, Vol. 17, Núm. 1, pp. 105
2021
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Celia’s encephalopathy (Bscl2-gene-related): Current understanding
Journal of Clinical Medicine, Vol. 10, Núm. 7
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Early versus conventional nutritional intervention in head and neck cancer patients before radiotherapy: benefits of a fast-track circuit
European Journal of Clinical Nutrition, Vol. 75, Núm. 5, pp. 748-753
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Familial partial lipodystrophy syndromes
Presse Medicale
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Focus on progressive myoclonic epilepsy in Berardinelli-Seip syndrome
Neurological Sciences
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Relevance of nutritional assessment and treatment to counteract cardiac cachexia and sarcopenia in chronic heart failure
Clinical Nutrition, Vol. 40, Núm. 9, pp. 5141-5155
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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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Hyperpigmented macula: An adverse reaction of treatment with metreleptin
Anales de Pediatria, Vol. 93, Núm. 4, pp. 270-271
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LipoDDx: A mobile application for identification of rare lipodystrophy syndromes
Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1