Publicaciones en colaboración con investigadores/as de Instituto de Salud Carlos III (6)

2022

  1. Recombinant porphobilinogen deaminase targeted to the liver corrects enzymopenia in a mouse model of acute intermittent porphyria

    Science Translational Medicine, Vol. 14, Núm. 627

2021

  1. Diagnosis and management of inborn errors of metabolism in adult patients in the emergency department

    Diagnostics, Vol. 11, Núm. 11

  2. High prevalence of insulin resistance in asymptomatic patients with acute intermittent porphyria and liver-targeted insulin as a novel therapeutic approach

    Biomedicines, Vol. 9, Núm. 3, pp. 1-18

  3. mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks

    Molecular Therapy - Nucleic Acids, Vol. 25, pp. 207-219

2019

  1. Messenger RNA therapy for rare genetic metabolic diseases

    Gut, Vol. 68, Núm. 7, pp. 1323-1330

2018

  1. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria

    Nature Medicine, Vol. 24, Núm. 12, pp. 1899-1909