Publicacións nas que colabora con Sofía Sánchez Iglesias (11)

2020

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

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

2019

  1. Does Seipin Play a Role in Oxidative Stress Protection and Peroxisome Biogenesis? New Insights from Human Brain Autopsies

    Neuroscience, Vol. 396, pp. 119-137

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. Lipodystrophic laminopathies: Diagnostic clues

    Nucleus, Vol. 9, Núm. 1, pp. 249-260

2017

  1. Acantosis nigricans in severe insulin resistance syndromes

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

2016

  1. Skipped BSCL2 transcript in celia's encephalopathy (PELD): New insights on fatty acids involvement, senescence and adipogenesis

    PLoS ONE, Vol. 11, Núm. 7

  2. 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