Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (6)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. The lipopolysaccharide-TLR4 axis regulates hepatic glutaminase 1 expression promoting liver ammonia build-up as steatotic liver disease progresses to steatohepatitis

    Metabolism: Clinical and Experimental, Vol. 158

2023

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

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

2021

  1. Leigh syndrome associated with TRMU gene mutations

    Molecular Genetics and Metabolism Reports, Vol. 26

2019

  1. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

2017

  1. Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    Scientific Reports, Vol. 7, Núm. 1