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Publicacions

  • Pancho C, Garcia-Cazorla A, Varea V, Artuch-Iriberri R, Ferrer I, Vilaseca MA, Briones P and Campistol-Plana J.

    Congenital disorder of glycosylation type la revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment

    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 40(2): 230-232. Nº de cites: 12

    [doi:10.1097/00005176-200502000-00030]

  • Montero-Sanchez R, Artuch-Iriberri R, Briones P, Nascimento-Osorio A, Garcia-Cazorla A, Vilaseca MA, Sánchez-Alcázar JA, Navas P, Montoya J and Pineda M.

    Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

    Biofactors . 25(1-4): 109-115. Nº de cites: 38

    [doi:10.1002/biof.5520250112]

  • Ormazabal-Herrero A, Artuch-Iriberri R, Vilaseca MA, Garcia-Cazorla A and Campistol-Plana J.

    Pathogenetic mechanisms in phenylketonuria:: Disorders affecting the metabolism of neurotransmitters and the antioxidant system

    REVISTA DE NEUROLOGIA . 39(10): 956-961. Nº de cites: 7

    [doi:10.33588/rn.3910.2004221]

  • Garcia-Cazorla A, Olivan, JA, Pancho, C, Sans, A, Boix, C and Campistol-Plana J.

    Infectious acute hemicerebellitis

    JOURNAL OF CHILD NEUROLOGY . 19(5): 390-392. Nº de cites: 20

    [doi:10.1177/088307380401900514]

  • Garcia-Cazorla A, Sans, A, Baquero, M, Garcia-Bargo, MD, Arellano, M, Poo, P, Gean, E and Campistol-Plana J.

    White matter alterations associated with chromosomal disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 46(3): 148-153. Nº de cites: 19

    [doi:10.1017/S0012162204000271]

  • 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: 119

    [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: 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]