Persones / Equip Humà

Jaume Campistol Plana

Buscador de publicacions

Publicacions

  • Pérez-Cerdá C, Merinero B, Rodríguez-Pombo P, Pérez-Dueñas B, Desviat LR, Muro S, Richard E, García MJ, Gangoiti J, Ruiz Sala P, Sanz P, Briones P, Ribes A, Martínez-Pardo M, Campistol-Plana J, Pérez M, Lama R, Murga ML, Lema-Garrett T, Verdú A and Ugarte M.

    Potential relationship between genotype and clinical outcome in propionic acidaemia patients

    EUROPEAN JOURNAL OF HUMAN GENETICS . 8(3): 187-194. Nº de cites: 55

    [doi:10.1038/sj.ejhg.5200442]

  • Cardo E, Pineda M, Vilaseca MA, Artuch-Iriberri R and Campistol-Plana J.

    Risk factors in cerebrovascular disease in childhood

    REVISTA DE NEUROLOGIA . 30(1): 21-27. Nº de cites: 11

    [doi:10.33588/rn.3001.99459]

  • Cardo, E, Pineda M, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.

    Propuesta de protocolo de estudio de las enfermedades cerebrovasculares de la infancia

    ANALES DE PEDIATRIA . 52(5): 435-442.

  • Quintillá-Martínez JM, Campistol-Plana J, Boleda Vall-Llobera, MD, Vilaseca MA, Artuch-Iriberri R, Palomeque A, Briones, P and Ribes Rubió, A.

    Síndrome de Reye-like como manifestacion inicial de enfermedad mitocondrial

    ANALES DE PEDIATRIA . 52(5): 479-482.

  • López-Lafuente A, Campistol-Plana J, Toll MT and Iriondo-Sanz M.

    Perinatal intracranial hemorrhage due to immune thrombocytopenia

    REVISTA DE NEUROLOGIA . 29(10): 917-922. Nº de cites: 3

    [doi:10.33588/rn.2910.99197]

  • Artuch-Iriberri R, Vilaseca MA, Moreno J, Lambruschini N, Cambra-Lasaosa FJ and Campistol-Plana J.

    Decreased serum ubiquinone-10 concentrations in phenylketonuria

    AMERICAN JOURNAL OF CLINICAL NUTRITION . 70(5): 892-895. Nº de cites: 56

  • Mallolas J, Vilaseca MA, Campistol-Plana J, Lambruschini N, Cambra-Lasaosa FJ, Estivill X and Milà M.

    Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia:: genotype-phenotype correlation

    HUMAN GENETICS . 105(5): 468-473. Nº de cites: 32

    [doi:10.1007/s004390051132]

  • Arroyo S, Campistol-Plana J, Comes E, Fossas P, Martínez I, Padró L, Ugarte A and Santamaria J.

    The treatment of epilepsy. A therapeutic guide of the Catalan Society of Neurology

    REVISTA DE NEUROLOGIA . 29(8): 754-766. Nº de cites: 9

    [doi:10.33588/rn.2908.99338]

  • Campistol-Plana J, Poo P, Fernández-Alvarez E and Carratalá F.

    Parasagittal cerebral injury: Magnetic resonance findings

    JOURNAL OF CHILD NEUROLOGY . 14(10): 683-685. Nº de cites: 9

    [doi:10.1177/088307389901401011]

  • Climent C, García-Pérez MA, Sanjurjo P, Ruiz-Sanz JI, Vilaseca MA, Pineda M, Campistol-Plana J and Rubio V.

    Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency

    HUMAN MUTATION . 14(4): 352-353.

    [doi:10.1002/(SICI)1098-1004(199910)14:4<352::AID-HUMU15>3.0.CO;2-D]