People / Staff

MªAngels García Cazorla

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Publications

  • 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 50

    [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. Number of citations: 46

    [doi:10.1016/j.ejpn.2008.09.002]

  • 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. Number of citations: 10

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

  • 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. Number of citations: 660

    [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. Number of citations: 8

    [doi:10.1016/j.pediatrneurol.2008.12.009]