Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • 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 cites: 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 cites: 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 cites: 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 cites: 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 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 . : .

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.

    CLINICAL CHEMISTRY . : .

    [doi:10.1093/clinchem/hvae139]

  • 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]