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

2024

  1. Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

    European Journal of Human Genetics, Vol. 32, Núm. 4, pp. 426-434

2020

  1. Coenzyme Q10 treatment monitoring in different human biological samples

    Antioxidants

  2. Laboratory Diagnosis of a Case with Coenzyme Q10 Deficiency

    Clinical chemistry, Vol. 66, Núm. 11, pp. 1465-1467

2018

  1. Molecular diagnosis of coenzyme Q 10 deficiency: an update

    Expert Review of Molecular Diagnostics, Vol. 18, Núm. 6, pp. 491-498

2015

  1. Molecular diagnosis of coenzyme Q10 deficiency

    Expert Review of Molecular Diagnostics, Vol. 15, Núm. 8, pp. 1049-1059

2012

  1. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency

    Journal of Medical Genetics, Vol. 49, Núm. 3, pp. 187-191