Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (42)

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

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

2013

  1. A new seipin-associated neurodegenerative syndrome

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