Publications by the researcher in collaboration with Rafael Artuch Iriberri (33)

2024

  1. Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    Antioxidants, Vol. 13, Núm. 8

  2. 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

  3. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease, Vol. 47, Núm. 5, pp. 1047-1068

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. Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population

    BioFactors, Vol. 41, Núm. 6, pp. 424-430

  2. Molecular diagnosis of coenzyme Q10 deficiency

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