Publicacións nas que colabora con Susana Teijeira Bautista (5)

2023

  1. Morphological Hallmarks of Classical Fabry Disease: An Ultrastructural Study in a Large Spanish Family

    Journal of Clinical Medicine, Vol. 12, Núm. 17

2018

  1. Fabry disease in the Spanish population: Observational study with detection of 77 patients

    Orphanet Journal of Rare Diseases, Vol. 13, Núm. 1

2011

  1. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

  2. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations

    Neuromuscular Disorders, Vol. 21, Núm. 12, pp. 817-823

2010

  1. Histopathology of skin in fabry disease

    Fabry Disease (Springer Netherlands), pp. 275-292