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Neurometabolisme pediàtric: mecanismes de comunicació neuronal i teràpies personalitzades

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Publicacions

  • 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 . 67(4): 537-549. Nº de cites: 1

    [doi:10.1111/dmcn.16094]

  • Garcia-Cazorla A, Morava, E and Saudubray, JM.

    "Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs"

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): .

    [doi:10.1002/jimd.70004]

  • Gavazzi F, Charsar B, Hamilton E, Erler JA, Patel V, Woidill S, Sevagamoorthy A, Helman G, Schmidt J, Pizzino A, Muirhead K, Takanohashi A, Bonkowsky JL, Meyerhoffer K, Simons C, Doi H, Satoko M, Matsumoto N, Delgado MR, Sanchez-Castillo M, Wang J, de Carvalho DR, Tournev I, Chamova T, Jordanova A, Clegg NJ, Nicita F, Bertini E, Teng M, Williams D, Tonduti D, Houlden H, Stellingwerff M, Wassmer E, Garcia-Cazorla A, Bernard G, Mirchi A, Toutounchi H, Wolf NI, van der Knaap MS, Shults J, Adang LA and Vanderver AL.

    The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109048-109048.

    [doi:10.1016/j.ymgme.2025.109048]

  • Santos-Gómez A, Julià-Palacios NA, Rejano-Bosch A, Marí-Vico R, Miguez-Cabello F, Masana M, Soto D, Olivella M, Garcia-Cazorla A and Altafaj X.

    Spermidine Treatment Improves GRIN2B Loss-Of-Function, A Primary Disorder of Glutamatergic Neurotransmission.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(2): .

    [doi:10.1002/jimd.70015]

  • Tokatly Latzer I, Hanson E, Bertoldi M, DiBacco ML, Aygun D, Afacan O, Garcia-Cazorla A, Julià-Palacios NA, Opladen T, Hübschmann OK, Jeltsch K, Aden P, Oppebøen M, Rotenberg A, Tsuboyama M, Roullet JB and Pearl PL.

    The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism

    MOLECULAR GENETICS AND METABOLISM . 144(3): 109051-109051.

    [doi:10.1016/j.ymgme.2025.109051]

  • 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 . 225(2): 70-77.

    [doi:10.1016/j.rceng.2024.11.007]

  • Neugebauer J, Reinson K, Bellusci M, Park JH, Hikmat O, Bertini E, Schiff M and Rahman S.

    Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey.

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): .

    [doi:10.1002/jimd.12805]

  • 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 . 48(1): .

    [doi:10.1002/jimd.12841]

  • Gimeno-Agud H, Díaz-Osorio Y and De Oyarzabal-Sanz AL.

    Biological Basis of Cell Trafficking: A General Overview

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Nº de cites: 1

    [doi:10.1002/jimd.12839]

  • Vega-Hanna L, Casas-Alba D, Balsells S, Bolasell M, Rubio P, García-García AP, García-García O, O'Callaghan-Gordo M, Pascual-Alonso A, Armstrong-Moron J, Mds Group and Martinez-Monseny T.

    MECP2 Duplication Syndrome: AI-Based Diagnosis, Severity Scale Development and Correlation with Clinical and Molecular Variables

    Diagnostics . 15(1): .

    [doi:10.3390/diagnostics15010010]