Pilar Rodríguez Pombo-rekin lankidetzan egindako argitalpenak (3)

2022

  1. Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

2019

  1. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11

  2. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562