Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2024

  1. Profile of plasma microRNAs as a potential biomarker of Wilson’s disease

    Journal of Gastroenterology, Vol. 59, Núm. 10, pp. 921-931

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

    Gut

  3. Women with Gaucher Disease

    Biomedicines, Vol. 12, Núm. 3

2023

  1. Diagnosis, evaluation and monitoring of acute hepatic porphyria

    Medicina Clinica

  2. Exogenous aralar/slc25a12 can replace citrin/slc25a13 as malate aspartate shuttle component in liver

    Molecular Genetics and Metabolism Reports, Vol. 35

  3. Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi

    Molecular Therapy Nucleic Acids, Vol. 34

  4. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

    Genome Medicine, Vol. 15, Núm. 1

  5. The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent

    Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895

2022

  1. Diagnostic and follow-up protocol for adult patients with neurofibromatosis type 1 in a Spanish reference unit

    Revista Clinica Espanola, Vol. 222, Núm. 8, pp. 486-495