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Publicaciones

  • MacDonald, A, van Wegberg, A M J, Ahring, K, Beblo, S, Belanger-Quintana, A, Burlina, A, Campistol-Plana J, Coskun, T, Feillet, F, Gizewska, M, Huijbregts, S C, Leuzzi, V, Maillot, F, Muntau, A C, Rocha, J C, Romani, C, Trefz, F and van Spronsen, F J.

    Correction to: PKU dietary handbook to accompany PKU guidelines.

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 230-230.

    [doi:10.1186/s13023-020-01486-6]

  • Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol-Plana J, Artuch-Iriberri R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A and Pérez B.

    Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

    HUMAN MUTATION . 41(7): 1329-1338.

    [doi:10.1002/humu.24026]

  • MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ.

    PKU dietary handbook to accompany PKU guidelines.

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 171-171.

    [doi:10.1186/s13023-020-01391-y]

  • Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol-Plana J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, SOGRI Consortium and Lapunzina P.

    Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    EUROPEAN JOURNAL OF HUMAN GENETICS . 28(4): 469-479. Nº de citas: 1

    [doi:10.1038/s41431-019-0485-3]

  • Gassió-Subirachs R, González MJ, Sans-Capdevila O, Artuch-Iriberri R, Sierra-March C, Ormazabal-Herrero A, Cuadras-Palleja D and Campistol-Plana J.

    Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(5): 685-691. Nº de citas: 1

    [doi:10.1016/j.ejpn.2019.08.005]

  • Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.

    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    CLINICAL GENETICS . 95(6): 726-731. Nº de citas: 2

    [doi:10.1111/cge.13504]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Joan Maynou Fernández, Fernandez G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q(10) status is impaired in selected genetic conditions.

    SCIENTIFIC REPORTS . 9(1): 793-793. Nº de citas: 4

    [doi:10.1038/s41598-018-37542-2]

  • Campistol-Plana J.

    Fenilcetonuria de diagnóstico precoz. Bases fisiopatológicas del daño neuronal y opciones terapéuticas.

    MEDICINA-BUENOS AIRES . 79 Suppl 3: 2-5.

  • Revilla Orías MD, Alonso X, Campistol-Plana J, Alfons Macaya, Escofet C and Fons-Estupina C.

    Epilepsia en niños con hemiparesia congénita secundaria a infartos cerebrales vasculares perinatales.

    MEDICINA-BUENOS AIRES . 79 Suppl 3: 6-9.

  • Campistol-Plana J.

    Epilepsies of metabolic origin in the neonate.

    MEDICINA-BUENOS AIRES . 79 Suppl 3: 20-24.