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Jaume Campistol Plana

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Publications

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 7(1): 12288-12288. Number of citations: 19

    [doi:10.1038/s41598-017-11620-3]

  • van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH and MacDonald A.

    Key European guidelines for the diagnosis and management of patients with phenylketonuria.

    LANCET DIABETES & ENDOCRINOLOGY . 5(9): 743-756. Number of citations: 272

    [doi:10.1016/S2213-8587(16)30320-5]

  • Mendes MI, Smith DE, Pop A, Lennertz P, Ojeda MR, Kanhai WA, van Dooren SJ, Anikster Y, Baric I, Boelen C, Campistol-Plana J, de Boer L, Kariminejad A, Kayserili H, Roubertie A, Verbruggen KT, Vianey-Saban C, Williams M and Salomons GS.

    Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

    HUMAN MUTATION . 38(5): 524-531. Number of citations: 21

    [doi:10.1002/humu.23181]

  • Caprile C, Campistol-Plana J, Puigcerver L, Gutiérrez-Mata AP, Alonso-Colmenero I, Colomé-Roura R and Navarra J.

    Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria

    JOURNAL OF CLINICAL AND EXPERIMENTAL NEUROPSYCHOLOGY . 39(10): 931-940. Number of citations: 2

    [doi:10.1080/13803395.2017.1281381]

  • Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol-Plana J, Couce ML, García-Silva MT, González Gutiérrez-Solana L and Del Toro M.

    Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso.

    MEDICINA CLINICA . 147(11): 506-506. Number of citations: 8

    [doi:10.1016/j.medcli.2016.09.018]

  • Fons-Estupina C and Campistol-Plana J.

    Creatine Defects and Central Nervous System.

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 285-289. Number of citations: 19

    [doi:10.1016/j.spen.2016.11.003]

  • Campistol-Plana J.

    Epilepsy in Inborn Errors of Metabolism With Therapeutic Options

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 321-331. Number of citations: 16

    [doi:10.1016/j.spen.2016.11.006]

  • González MJ, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Impaired Neurotransmission in Early-treated Phenylketonuria Patients

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 332-340. Number of citations: 23

    [doi:10.1016/j.spen.2016.11.007]

  • Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.

    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Number of citations: 28

    [doi:10.1111/dmcn.13114]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    PLoS One . 11(5): . Number of citations: 40

    [doi:10.1371/journal.pone.0156359]