Centro de Investigación Biomédica en Red sobre Enfermedades Raras -ko ikertzaileekin lankidetzan egindako argitalpenak (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