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Publicaciones

  • Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Nº de citas: 37

    [doi:10.1111/dmcn.12116]

  • Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.

    cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

    JIMD Reports . 8: 57-62. Nº de citas: 6

    [doi:10.1007/8904_2012_161]

  • Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal-Herrero A and Artuch-Iriberri R.

    Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

    DRUG DISCOVERY TODAY . 17(23-24): 1299-1306. Nº de citas: 34

    [doi:10.1016/j.drudis.2012.07.008]

  • Jimenez E, Ormazabal-Herrero A, Serrano M, Ortez-Gonzalez CI, Artuch-Iriberri R, Garcia-Cazorla A and Campistol-Plana J.

    Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases

    REVISTA DE NEUROLOGIA . 54(7): 394-398. Nº de citas: 4

    [doi:10.33588/rn.5407.2011454]

  • Fons-Estupina C, Rizzu P, Garcia-Cazorla A, Martorell-Sampol L, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Fernández-Alvarez E.

    TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

    BRAIN & DEVELOPMENT . 34(3): 255-257. Nº de citas: 17

    [doi:10.1016/j.braindev.2011.04.007]

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

    JIMD Reports . 4: 13-16. Nº de citas: 4

    [doi:10.1007/8904_2011_41]

  • López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal-Herrero A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K and Artuch-Iriberri R.

    Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

    JOURNAL OF NEUROLOGY . 258(12): 2155-2162. Nº de citas: 24

    [doi:10.1007/s00415-011-6079-9]

  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Nº de citas: 8

    [doi:10.1016/j.mito.2011.06.009]

  • Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazabal-Herrero A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch-Iriberri R, Ugarte M and Desviat LR.

    Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics . 12(3): 183-191. Nº de citas: 32

    [doi:10.1007/s10048-011-0279-4]

  • Serrano M, Ormazabal-Herrero A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Pérez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

    CLINICAL BIOCHEMISTRY . 44(8-9): 742-744. Nº de citas: 7

    [doi:10.1016/j.clinbiochem.2011.03.136]