Publications in collaboration with researchers from Complexo Hospitalario Universitario de Santiago (15)

2022

  1. Lipodystrophy-associated progeroid syndromes

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

2020

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

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

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

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

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

2013

  1. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409