Publications en collaboration avec des chercheurs de Complejo Hospitalario de Toledo (2)

2023

  1. Untangling adaptive functioning of PMM2-CDG across age and its impact on parental stress: a cross-sectional study

    Scientific Reports, Vol. 13, Núm. 1

2018

  1. Stroke-like episodes and cerebellar syndrome in phosphomannomutase deficiency (PMM2-CDG): Evidence for hypoglycosylation-driven channelopathy

    International Journal of Molecular Sciences, Vol. 19, Núm. 2