Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • Fernández-Alvarez E, Garcia-Cazorla A, Sans A, Boix Lluch C, Vilaseca, A, Busquets, C and Ribes, A.

    Hand tremor and orofacial dyskinesia:: Clinical manifestations of glutaric aciduria type I in a young girl

    MOVEMENT DISORDERS . 18(9): 1076-1079. Nº de citas: 7

    [doi:10.1002/mds.10442]

  • Campistol-Plana J and Garcia-Cazorla A.

    West's syndrome.: Analysis, aetiological factors and therapeutic options

    REVISTA DE NEUROLOGIA . 37(4): 345-352. Nº de citas: 14

    [doi:10.33588/rn.3704.2003181]

  • Haut, S, Brivet, M, Touati, G, Rustin, P, Lebon, S, Garcia-Cazorla A, Saudubray, JM, Boutron, A, Legrand, A and Slama, A.

    A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

    HUMAN GENETICS . 113(2): 118-122. Nº de citas: 121

    [doi:10.1007/s00439-003-0946-0]

  • 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 citas: 77

    [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 citas: 1

    [doi:10.33588/rn.3602.2002345]

  • Noguera-Julian 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 citas: 3

    [doi:10.33588/rn.3511.2002314]

  • Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.

    Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.

    JOURNAL OF INHERITED METABOLIC DISEASE . : .

    [doi:https://doi.org/10.1002/jimd.12841]

  • 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 . : .

  • Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL.

    Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

    research square . : .

    [doi:10.21203/rs.3.rs-3111263/v1]

  • Schoenmakers DH, Asbreuk MABC, Martin T, Datema M, Beerepoot S, Inbar-Feigenberg M, Groeschel S, Kehrer C, Øberg A, Sevin C, Fumagalli F, Bergner CG, Vieira P, Bley A, Uusimaa J, Horn MA, Brožová K, Stögmann E, Pichler H, Lüftinger R, Eklund EA, Mochel F, Adang LA, Laugwitz L, Boelens JJ, Calbi V, Darling A, Garcia-Cazorla A, Grønborg SW, Lindemans CA, van Hasselt PM, Hollak CEM, de Koning TJ, Ram D, Dekker H, Schöls L, Zerem A, Graessner H and Wolf NI.

    Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 57: 72-81.

    [doi:10.1016/j.ejpn.2025.05.012]