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Aida Ormazabal Herrero

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Publications

  • Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal-Herrero A, Vilaseca MA, Spaapen LJ, Palau F and Artuch-Iriberri R.

    Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

    JOURNAL OF MEDICAL GENETICS . 46(6): 407-411. Number of citations: 14

    [doi:10.1136/jmg.2008.060632]

  • Temudo T, Rios M, Prior C, Carrilho I, Santos M, Maciel P, Sequeiros J, Fonseca M, Monteiro J, Cabral P, Vieira JP, Ormazabal-Herrero A and Artuch-Iriberri R.

    Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

    BRAIN & DEVELOPMENT . 31(1): 46-51. Number of citations: 41

    [doi:10.1016/j.braindev.2008.05.003]

  • Marín-Valencia I, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

    CLINICAL BIOCHEMISTRY . 41(16-17): 1306-1315. Number of citations: 38

    [doi:10.1016/j.clinbiochem.2008.08.077]

  • Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J, Torres RJ and Garcia-Cazorla A.

    Levodopa therapy in a Lesch-Nyhan disease patient:: Pathological, biochemical, neuroimaging, and therapeutic remarks

    MOVEMENT DISORDERS . 23(9): 1297-1300. Number of citations: 17

    [doi:10.1002/mds.21786]

  • Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.

    Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients

    MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Number of citations: 46

    [doi:10.1016/j.ymgme.2008.01.004]

  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Number of citations: 39

    [doi:10.1016/j.mito.2008.05.001]

  • 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: 19

    [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]