Publicaciones en las que colabora con Ángels García Cazorla (5)

2021

  1. Paradigmatic de novo grin1 variants recapitulate pathophysiological mechanisms underlying grin1‐related disorder clinical spectrum

    International Journal of Molecular Sciences, Vol. 22, Núm. 23

2016

  1. Targeted next generation sequencing in patients with inborn errors of metabolism

    PLoS ONE, Vol. 11, Núm. 5

2014

  1. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    Orphanet journal of rare diseases, Vol. 9, pp. 217

2011

  1. Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion, Vol. 11, Núm. 6, pp. 867-870

2005

  1. Inborn errors of metabolism with neurological symptomathology in the neonatal period

    Revista de Neurologia, Vol. 40, Núm. 6, pp. 321-326