People / Staff

Jaume Campistol Plana

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Publications

  • González MJ, Gutiérrez AP, Gassió-Subirachs R, Fusté ME, Vilaseca MA and Campistol-Plana J.

    Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

    MOLECULAR GENETICS AND METABOLISM . 104(S): 73-79. Number of citations: 30

    [doi:10.1016/j.ymgme.2011.07.015]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Number of citations: 6

    [doi:10.3233/JAD-2011-110647]

  • Russi ME, González V and Campistol-Plana J.

    Cerebral venous thromboses in the paediatric age: clinical presentation, risk factors, diagnosis and treatment

    REVISTA DE NEUROLOGIA . 51(11): 661-668. Number of citations: 3

    [doi:10.33588/rn.5111.2010355]

  • Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol-Plana J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons-Estupina C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D and Arzimanoglou A.

    Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

    BRAIN . 133(12): 3598-3610. Number of citations: 118

    [doi:10.1093/brain/awq295]

  • García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.

    X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency

    EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Number of citations: 9

    [doi:10.1038/ejhg.2010.118]

  • De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Number of citations: 33

    [doi:10.1007/s10545-010-9200-9]

  • Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Vilaseca MA and Artuch-Iriberri R.

    The monitoring of trace elements in blood samples from patients with inborn errors of metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 33: 43-49. Number of citations: 2

    [doi:10.1007/s10545-009-9015-8]

  • Serrano M, Vilaseca MA and Campistol-Plana J.

    Inborn errors of metabolism and sports

    APUNTS SPORTS MEDICINE . 45(167): 185-189.

  • Herranz JL, Casas-Fernández C, Campistol-Plana J, Campos-Castelló J, Rufo-Campos M, Torres-Falcón A and de Rosendo J.

    Lennox-Gastaut syndrome in Spain: a descriptive retrospective epidemiological study

    REVISTA DE NEUROLOGIA . 50(12): 711-717. Number of citations: 9

    [doi:10.33588/rn.5012.2010294]

  • Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol-Plana J, Pineda M and Bodamer OA.

    The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC)

    MOLECULAR GENETICS AND METABOLISM . 100(1): 42-45. Number of citations: 16

    [doi:10.1016/j.ymgme.2009.12.016]