Publications dans lesquelles il/elle collabore avec Rafael Artuch Iriberri (4)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

    Journal of Inherited Metabolic Disease

2019

  1. ADCK2 haploinsufficiency reduces mitochondrial lipid oxidation and causes myopathy associated with CoQ deficiency

    Journal of Clinical Medicine, Vol. 8, Núm. 9

2016

  1. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

2006

  1. Cerebellar ataxia with coenzyme Q10 deficiency: Diagnosis and follow-up after coenzyme Q10 supplementation

    Journal of the Neurological Sciences, Vol. 246, Núm. 1-2, pp. 153-158