People / Staff

Jaume Campistol Plana

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Publications

  • 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. Number of citations: 28

    [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. Number of citations: 4

  • 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(s3): 6-9.

  • 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. Number of citations: 19

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

  • Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol-Plana J, Garcia-Cazorla A, Pérez-Dueñas B, Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B and Orcesi S.

    Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

    ORPHANET JOURNAL OF RARE DISEASES . 13(1): 135-135. Number of citations: 17

    [doi:10.1186/s13023-018-0854-y]

  • Campistol-Plana J.

    Trastornos paroxísticos no epilépticos en el lactante.

    MEDICINA-BUENOS AIRES . 78 Suppl 2: 47-51.

  • Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.

    Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    SCIENTIFIC REPORTS . 7: 14675-14675. Number of citations: 6

    [doi:10.1038/s41598-017-15063-8]

  • van Wegberg AMJ, MacDonald A, 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, van Rijn M, Trefz F, Walter JH and van Spronsen FJ.

    The complete European guidelines on phenylketonuria: diagnosis and treatment.

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 162-162. Number of citations: 492

    [doi:10.1186/s13023-017-0685-2]

  • 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]