Search publications

Publications

  • Campistol-Plana J.

    Reaching a diagnosis in congenital metabolic disorders using neuroimaging

    REVISTA DE NEUROLOGIA . 28(1): 16-23. Number of citations: 11

    [doi:10.33588/rn.2801.98342]

  • Pineda M, Aracil A, Vernet A, Espada M, Cobo E, Arteaga R, Artigas J, Barrionuevo C, Bautista-González L, Berenguer-Molla R, Caballero J, Cabrera J, Campistol-Plana J, Campos J, Casas-Fernández C, Castelló M, Castro-Gago M, Castroviejo P, Colomer J, Delgado P, Domingo R, Domínguez-Jiménez A, Fernández-Alvarez E, García-Aymerich J and Vidal R.

    A study of Rett syndrome in the Spanish population

    REVISTA DE NEUROLOGIA . 28(1): 105-109. Number of citations: 7

    [doi:10.33588/rn.2801.98359]

  • Pineda Sánchez J, Palomeque A, Cambra-Lasaosa FJ, Caritg Bosch J, Martín Rodrigo JM, Campistol-Plana J and Fernández-Alvarez E.

    Enfermedad de Moya-Moya. Una causa de oclusin vascular en la infancia.

    ANALES DE PEDIATRIA . 50(1): 44-48.

  • Campistol-Plana J, Arellano, M, Poo P, Escofet, C, Pérez Olarte, P and Vilaseca MA.

    Embriopatía por fenilcetonuria materna. Una causa de retardo mental poco diagnosticada. Revision de ocho observaciones

    ANALES DE PEDIATRIA . 51(2): 139-142.

  • Cardo E, Vilaseca MA, Campistol-Plana J, Artuch-Iriberri R, Colomé C and Pineda M.

    Evaluation of hyperhomocysteinaemia in children with stroke.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 3(3): 113-7. Number of citations: 38

    [doi:10.1016/S1090-3798(99)90098-3]

  • Campistol-Plana J, Gassió-Subirachs R, Pineda M and Fernández-Alvarez E.

    Acute necrotizing encephalopathy of childhood (infantile bilateral thalamic necrosis): two non-Japanese cases

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 40(11): 771-774. Number of citations: 40

  • Sierra C, Vilaseca MA, Moyano D, Brandi N, Campistol-Plana J, Lambruschini N, Cambra-Lasaosa FJ, Deulofeu R and AUREA MIRA VALLET.

    Antioxidant status in hyperphenylalaninemia

    CLINICA CHIMICA ACTA . 276(1): 1-9. Number of citations: 57

    [doi:10.1016/S0009-8981(98)00091-6]

  • Busquets C, Coll MJ, Christensen E, Campistol-Plana J, Clusellas N, Vilaseca MA and Ribes A.

    Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

    JOURNAL OF INHERITED METABOLIC DISEASE . 21(3): 243-246. Number of citations: 6

    [doi:10.1023/A:1005359920675]

  • Artuch-Iriberri R, Pineda M, Vilaseca MA, Briones P, Ribes A, Colomer J, Vernet A and Campistol-Plana J.

    Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: Evaluation of biochemical tests for selective screening

    REVISTA DE NEUROLOGIA . 26(149): 38-42. Number of citations: 6

    [doi:10.33588/rn.26149.981079]

  • Mallolas J, Campistol-Plana J, Lambruschini N, Vilaseca MA, Cambra-Lasaosa FJ, Estivill X and Milà M.

    Two novel mutations in exon 11 of the PAH gene (V1163del TG and P362T) associated with classic phenylketonuira and mild phenylketonuria. Mutations in brief no. 143. Online

    HUMAN MUTATION . 11(6): 482-482. Number of citations: 3

    [doi:10.1002/(SICI)1098-1004(1998)11:6<482::AID-HUMU15>3.0.CO;2-E]