Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (43)

2023

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

    Cells, Vol. 12, Núm. 5

  2. 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

2022

  1. Lipodystrophy-associated progeroid syndromes

    Hormones, Vol. 21, Núm. 4, pp. 555-571

  2. Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Cambridge, UK, 7–8 April 2022

    Annales d'Endocrinologie

2021

  1. Celia’s encephalopathy (Bscl2-gene-related): Current understanding

    Journal of Clinical Medicine, Vol. 10, Núm. 7

  2. Familial partial lipodystrophy syndromes

    Presse Medicale

  3. Variable expressivity and allelic heterogeneity in type 2 familial partial lipodystrophy: The p.(thr528met) lmna variant

    Journal of Clinical Medicine, Vol. 10, Núm. 7

  4. 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

  1. High prevalence of non-thyroidal illness syndrome in patients at long-term care facilities

    Endocrine, Vol. 70, Núm. 2, pp. 348-355

  2. LipoDDx: A mobile application for identification of rare lipodystrophy syndromes

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

2019

  1. Celia’s encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    Neurogenetics

  2. Novel TMEM127 Variant Associated to Bilateral Phaeochromocytoma with an Uncommon Clinical Presentation

    Case Reports in Endocrinology, Vol. 2019

2018

  1. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy

    European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406

  2. Bone mineral density in familial partial lipodystrophy

    Clinical Endocrinology, Vol. 88, Núm. 1, pp. 44-50

  3. Inflammatory myopathy in the context of an unusual overlapping laminopathy

    Archives of Endocrinology and Metabolism, Vol. 62, Núm. 3, pp. 376-382

  4. Lipodystrophy

    Encyclopedia of Endocrine Diseases (Elsevier), pp. 482-495

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

    Anales de Pediatria, Vol. 86, Núm. 3, pp. 166-168

2016

  1. Type 1 familial partial lipodystrophy: understanding the Köbberling syndrome

    Endocrine, Vol. 54, Núm. 2, pp. 411-421

2015

  1. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147

  2. Síndromes lipodistróficos infrecuentes

    Medicina Clinica, Vol. 144, Núm. 2, pp. 80-87