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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders

    Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de cites: 3

    [doi:10.1055/s-0035-1554782]

  • Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.

    Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature

    CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Nº de cites: 1

    [doi:10.1097/MCD.0000000000000064]

  • 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]

  • Ottenhoff MJ, Mous SE, Castricum J, Rietman AB, Oostenbrink R, van der Vaart T, Tulen JHM, Parra-Checa A, Ramos F, Legius E, Moll HA, Elgersma Y and de Wit MY.

    Lamotrigine for cognitive deficits associated with neurofibromatosis type 1: A phase II randomized placebo-controlled trial.

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . : . Nº de cites: 1

    [doi:10.1111/dmcn.16094]

  • Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan-Gordo M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A and Brunetti-Pierri N.

    Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

    Med . : .

    [doi:10.1016/j.medj.2024.10.021]

  • Villarrubia J, Morales M, Ceberio L, Vitoria I, Bellusci M, Quiñones I, Peña L, Ruiz de Valbuena M and O'Callaghan-Gordo M.

    Ecological study to estimate the prevalence of patients with acid sphingomyelinase deficiency in Spain. PREVASMD Study.

    Revista clinica espanola . : .

    [doi:10.1016/j.rceng.2024.11.007]

  • 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]