Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • 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]

  • 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 citas: 41

    [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 citas: 40

    [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 citas: 48

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

  • Velasco-Sánchez D, Gomez-Lopez L, Vilaseca MA, Serrano M, Massaguer S, Campistol-Plana J and Garcia-Cazorla A.

    Cerebellar Hemorrhage in a Patient with Propionic Acidemia

    Cerebellum . 8(3): 352-354. Nº de citas: 10

    [doi:10.1007/s12311-009-0103-y]

  • 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 citas: 43

    [doi:10.1016/j.ejpn.2008.09.002]

  • Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Garcia-Cazorla A, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT and Crow YJ.

    Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response

    NATURE GENETICS . 41(7): 829-89. Nº de citas: 622

    [doi:10.1038/ng.373]

  • Cerisola A, Campistol-Plana J, Pérez-Dueñas B, Poo P, Pineda M, Garcia-Cazorla A, Sanmarti FX, Ribes A and Vilaseca MA.

    Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I

    PEDIATRIC NEUROLOGY . 40(6): 426-431. Nº de citas: 8

    [doi:10.1016/j.pediatrneurol.2008.12.009]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, Garcia-Cazorla A, Montoya J, Navas P and Artuch-Iriberri R.

    Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

    CLINICAL BIOCHEMISTRY . 42(7-8): 742-745. Nº de citas: 23

    [doi:10.1016/j.clinbiochem.2008.10.027]

  • Roche-Martinez A, Pérez-Dueñas B, Camacho Díaz JA, Torres RJ, Puig JG, Garcia-Cazorla A and Artuch-Iriberri R.

    Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome

    AMERICAN JOURNAL OF KIDNEY DISEASES . 53(4): 677-680. Nº de citas: 32

    [doi:10.1053/j.ajkd.2008.09.011]