Publications in collaboration with researchers from Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (4)

2025

  1. Systemic messenger RNA replacement therapy is effective in a novel clinically relevant model of acute intermittent porphyria developed in non-human primates

    Gut, Vol. 74, Núm. 2, pp. 270-283

2022

  1. Recent Insights into the Pathogenesis of Acute Porphyria Attacks and Increasing Hepatic PBGD as an Etiological Treatment

    Life, Vol. 12, Núm. 11

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

    Science Translational Medicine, Vol. 14, Núm. 627

2020

  1. Brain ventricular enlargement in human and murine acute intermittent porphyria

    Human molecular genetics, Vol. 29, Núm. 19, pp. 3211-3223