Publications in collaboration with researchers from Hospital Vall d'Hebron (2)

2024

  1. New variants expand the neurological phenotype of COQ7 deficiency

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

2022

  1. Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects

    Antioxidants, Vol. 11, Núm. 4