Personas / Equipo Humano

Jaume Campistol Plana

Buscador de publicaciones

Publicaciones

  • Fons-Estupina C, Arias A, Sempere A, Poo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch-Iriberri R, Campistol-Plana J and Ribes A.

    Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

    MOLECULAR GENETICS AND METABOLISM . 99(3): 296-299. Nº de citas: 21

    [doi:10.1016/j.ymgme.2009.10.186]

  • Serrano M, Martins C, Pérez-Dueñas B, Gomez-Lopez L, Murgui E, Fons-Estupina C, Garcia-Cazorla A, Artuch-Iriberri R, Jara F, Arranz JA, Häberle J, Briones P, Campistol-Plana J, Pineda M and Vilaseca MA.

    Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

    JOURNAL OF CHILD NEUROLOGY . 25(3): 352-358. Nº de citas: 27

    [doi:10.1177/0883073809340696]

  • Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, Garcia-Cazorla A, Vilaseca MA, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(1): 1-7. Nº de citas: 25

    [doi:10.1007/s10545-009-9004-y]

  • Benavente-Fernández I, Garcia-Cazorla A, Jordán-García I, Capdevila-Cirera A and Campistol-Plana J.

    Diffusion-weighted imaging in pediatric central nervous system infections

    REVISTA DE NEUROLOGIA . 50(3): 133-138. Nº de citas: 2

    [doi:10.33588/rn.5003.2008246]

  • Gassió-Subirachs R, Vilaseca MA, Lambruschini N, Boix Lluch C, Fusté ME and Campistol-Plana J.

    Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin

    MOLECULAR GENETICS AND METABOLISM . 99(S): 75-78. Nº de citas: 16

    [doi:10.1016/j.ymgme.2009.10.187]

  • Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Fusté E, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Quality of dietary control in phenylketonuric patients and its relationship with general intelligence

    NUTRICION HOSPITALARIA . 25(1): 60-66. Nº de citas: 39

    [doi:10.3305/nh.2010.25.1.4482]

  • Sempere A, Fons-Estupina C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Creatine transporter deficiency in two adult patients with static encephalopathy

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 91-96. Nº de citas: 9

    [doi:10.1007/s10545-009-1083-2]

  • Sempere A, Fons-Estupina C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene

    MEDICINA CLINICA . 133(19): 745-749. Nº de citas: 7

    [doi:10.1016/j.medcli.2009.06.065]

  • Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, Garcia-Cazorla A, Serrano M, Pineda M and Campistol-Plana J.

    Brain injury in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(6): 534-540. Nº de citas: 16

    [doi:10.1016/j.ejpn.2008.12.002]

  • Garcia-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Fernández-Alvarez E, Colomer J, DiMauro S and Hoffmann GF.

    Inborn errors of metabolism and motor disturbances in children

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 618-629. Nº de citas: 40

    [doi:10.1007/s10545-009-1194-9]