Personas / Equipo Humano

Jaume Campistol Plana

Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 164

    [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: 26

    [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: 10

    [doi:10.1016/j.ejpn.2019.08.005]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports . 9: 11983-11983. Nº de citas: 19

    [doi:10.1038/s41598-019-48385-w]

  • 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: 12

    [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, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    Scientific Reports . 9: 793-793. Nº de citas: 30

    [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. Nº de citas: 6

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

    Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

    MEDICINA-BUENOS AIRES . 79: 6-9. Nº de citas: 1

  • Campistol-Plana J.

    Epilepsies of metabolic origin in the neonate.

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

  • González MJ, Rebollo M, Ripollés P, Gassió-Subirachs R, Ormazabal-Herrero A, Sierra-March C, Colomé-Roura R, Artuch-Iriberri R and Campistol-Plana J.

    White matter microstructural damage in early treated phenylketonuric patients

    Orphanet Journal of Rare Diseases . 13: 188-188. Nº de citas: 23

    [doi:10.1186/s13023-018-0912-5]