Buscador de publicaciones

Publicaciones

  • 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. Nº de citas: 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. Nº de citas: 31

    [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. Nº de citas: 2

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

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

    Inborn errors of metabolism and sports

    Apunts Sport 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. Nº de citas: 8

    [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. Nº de citas: 15

    [doi:10.1016/j.ymgme.2009.12.016]

  • López-Sala A, Palacio-Navarro A, Donaire A, García G, Colomé-Roura R, Boix Lluch C, Sans A, Campistol-Plana J and Sanmartí FX.

    Variables predictoras de retraso mental en una unidad de monitorización videoelectroencefalográfica pediátrica. Evaluación neuropsicológica.

    REVISTA DE NEUROLOGIA . 50 Suppl 3(s3): 59-67. Nº de citas: 1

  • Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Moreno J, Tondo M, Artuch-Iriberri R and Campistol-Plana J.

    Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin

    CLINICAL BIOCHEMISTRY . 43(4-5): 411-415. Nº de citas: 17

    [doi:10.1016/j.clinbiochem.2009.11.013]

  • Russi ME, González G, Crosa R, Pérez-Dueñas B, González-Alvarez V, Campistol-Plana J and Solá-Martínez T.

    Dissections of craniocervical arteries in the paediatric age: a pathology that is emerging or under-diagnosed?

    REVISTA DE NEUROLOGIA . 50(5): 257-264. Nº de citas: 5

    [doi:10.33588/rn.5005.2009359]

  • Marín-Valencia I, Vilaseca MA, Thió M, Garcia-Cazorla A, Artuch-Iriberri R and Campistol-Plana J.

    Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 14(2): 125-130. Nº de citas: 10

    [doi:10.1016/j.ejpn.2009.05.001]