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Aida Ormazabal Herrero

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Publications

  • Ruiz A, García-Villoria J, Ormazabal-Herrero A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch-Iriberri R, Vilaseca MA and Ribes A.

    A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency

    MOLECULAR GENETICS AND METABOLISM . 93(2): 216-218. Number of citations: 50

    [doi:10.1016/j.ymgme.2007.10.003]

  • Duarte S, Sanmarti F, Gonzalez V, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.

    Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

    BRAIN & DEVELOPMENT . 30(2): 106-111. Number of citations: 20

    [doi:10.1016/j.braindev.2007.06.009]

  • Artuch-Iriberri R, Moreno J, Puig R, Quintana M, Montero-Sanchez R, Ormazabal-Herrero A and Vilaseca MA.

    Laboratory diagnosis of rare diseases

    ANALES DEL SISTEMA SANITARIO DE NAVARRA . 31: 91-103. Number of citations: 6

  • Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Artuch-Iriberri R and Cormand B.

    A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis

    MOLECULAR GENETICS AND METABOLISM . 92(3): 274-277. Number of citations: 28

    [doi:10.1016/j.ymgme.2007.07.004]

  • Arias A, Corbella M, Fons-Estupina C, Sempere A, García-Villoria J, Ormazabal-Herrero A, Poo P, Pineda M, Vilaseca MA, Campistol-Plana J, Briones P, Pàmpols T, Salomons GS, Ribes A and Artuch-Iriberri R.

    Creatine transporter deficiency:: Prevalence among patients with mental retardation and pitfalls in metabolite screening

    CLINICAL BIOCHEMISTRY . 40(16-17): 1328-1331. Number of citations: 53

    [doi:10.1016/j.clinbiochem.2007.07.010]

  • Garcia-Cazorla A, Serrano M, Pérez-Dueñas B, González V, Ormazabal-Herrero A, Pineda M, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Secondary abnormalities of neurotransmitters in infants with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 49(10): 740-744. Number of citations: 37

    [doi:10.1111/j.1469-8749.2007.00740.x]

  • Ramaekers VT, Sequeira JM, Artuch-Iriberri R, Blau N, Temudo T, Ormazabal-Herrero A, Pineda M, Aracil A, Roelens F, Laccone F and Quadros EV.

    Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome

    Neuropediatrics . 38(4): 179-183. Number of citations: 50

    [doi:10.1055/s-2007-991148]

  • Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Artuch-Iriberri R, Coroleu W, Krauel Vidal X, Campistol-Plana J and Garcia-Cazorla A.

    Perinatal asphyxia may cause reduction in csf dopamine metabolite concentrations

    Neurology . 69(3): 311-313. Number of citations: 5

    [doi:10.1212/01.wnl.0000265855.13026.dd]

  • López-Laso E, Camino R, Mateos ME, Pérez-Navero JL, Ochoa JJ, Lao-Villadóniga JI, Ormazabal-Herrero A and Artuch-Iriberri R.

    Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 256(1-2): 90-93. Number of citations: 13

    [doi:10.1016/j.jns.2007.02.007]

  • Arias A, Ormazabal-Herrero A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch-Iriberri R and Ribes A.

    Methods for the diagnosis of creatine deficiency syndromes:: A comparative study

    JOURNAL OF NEUROSCIENCE METHODS . 156(1-2): 305-309. Number of citations: 31

    [doi:10.1016/j.jneumeth.2006.03.005]