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Publicacions

  • 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 cites: 11

    [doi:10.1016/j.ejpn.2009.05.001]

  • 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 cites: 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 cites: 2

    [doi:10.33588/rn.5003.2008246]

  • Serrano M, Ormazabal-Herrero A, Anton-Lopez J, Aróstegui JI and Garcia-Cazorla A.

    Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome

    PEDIATRIC NEUROLOGY . 41(6): 448-450. Nº de cites: 7

    [doi:10.1016/j.pediatrneurol.2009.06.008]

  • 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 cites: 17

    [doi:10.1016/j.ejpn.2008.12.002]

  • Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M and Pérez-Dueñas B.

    Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC)

    HUMAN MUTATION . 30(11): 1558-1566. Nº de cites: 85

    [doi:10.1002/humu.21107]

  • Wolf NI, Garcia-Cazorla A and Hoffmann GF.

    Epilepsy and inborn errors of metabolism in children

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 609-617. Nº de cites: 42

    [doi:10.1007/s10545-009-1171-3]

  • 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 cites: 41

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

  • Garcia-Cazorla A, Wolf NI, Serrano M, Moog U, Pérez-Dueñas B, Poo P, Pineda M, Campistol-Plana J and Hoffmann GF.

    Mental retardation and inborn errors of metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 597-608. Nº de cites: 49

    [doi:10.1007/s10545-009-0922-5]

  • Pérez-Dueñas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol-Plana J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch-Iriberri R and Vilaseca MA.

    Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(5): 444-451. Nº de cites: 46

    [doi:10.1016/j.ejpn.2008.09.002]