Investigación

Neurometabolismo pediátrico: mecanismos de comunicación neuronal y terapias personalizadas

Buscador de publicaciones

Publicaciones

  • Poo P.

    Problems of transition, experiences and neuropediatrician's point of view

    REVISTA DE NEUROLOGIA . 60(CONGRESO 1): 1-10.

  • Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL.

    Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

    research square . : .

    [doi:10.21203/rs.3.rs-3111263/v1]

  • Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:https://doi.org/10.1002/jimd.12841]

  • Nou-Fontanet L, Musokhranova U, Ramírez-Camacho A, Delgadillo V, Insuga VS, Fernández LA, Alonso-Colmenero I, Arzimanoglou A, Garcia-Cazorla A, De Oyarzabal-Sanz AL and Fons-Estupina C.

    AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 58: 20-26.

    [doi:10.1016/j.ejpn.2025.07.007]