Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Brivet, M, Garcia-Cazorla A, Lyonnet, S, Dumez, Y, Nassogne, MC, Slama, A, Boutron, A, Touati, G, Legrand, A and Saudubray, JM.

    Impaired mitochondrial pyruvate importation in a patient and a fetus at risk

    MOLECULAR GENETICS AND METABOLISM . 78(3): 186-192. Nº de cites: 73

    [doi:10.1016/S1096-7192(03)00016-7]

  • Vicente-Gutiérrez MP, Cambra-Lasaosa FJ, Campistol-Plana J, Garcia-Cazorla A, Munoz-Almagro C and Palomeque A.

    Acute infantile bilateral thalamic necrosis

    REVISTA DE NEUROLOGIA . 36(2): 122-125. Nº de cites: 1

    [doi:10.33588/rn.3602.2002345]

  • Noguera-Julián A, Pérez-Dueñas B, Pons-Odena M, Cambra-Lasaosa FJ, Palomeque A, Fortuny-Guasch C, Garcia-Cazorla A and Campistol-Plana J.

    Neurofibromatosis type 2 as a result of a de novo mutation:: A case report

    REVISTA DE NEUROLOGIA . 35(11): 1030-1033. Nº de cites: 3

    [doi:10.33588/rn.3511.2002314]

  • Cortés-Saladelafont E, Molero M, Duarte S, Casado-Rio M, Sierra-March C, O'Callaghan-Gordo M, Sanmarti FX, Fons-Estupina C, González V, Pérez-Dueñas B, Poo P, Ramos F, García-Alix A, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.

    Supplementation with pyridoxal phosphate may be useful in diverse neuropediatric disorders.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . : .

  • Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.

    New variants expand the neurological phenotype of COQ7 deficiency.

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:10.1002/jimd.12776]

  • Tost A, Bachiller A, Medina-Rivera IF, Romero-Lafuente S, Serna LY, Rojas M, Garcia-Cazorla A and Mañanas MA.

    Repetitive active and passive cognitive stimulations induce EEG changes in patients with Rett syndrome.

    PEDIATRIC RESEARCH . : .

    [doi:10.1038/s41390-024-03254-9]