Personas / Equipo Humano

Aida Ormazabal Herrero

Buscador de publicaciones

Publicaciones

  • Ormazabal-Herrero A, Pérez-Dueñas B, Sierra-March C, Urreitzi R, Montoya J, Serrano M, Campistol-Plana J, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

    CLINICAL BIOCHEMISTRY . 44(8-9): 719-721. Nº de citas: 12

    [doi:10.1016/j.clinbiochem.2011.03.002]

  • Pérez-Dueñas B, Ormazabal-Herrero A, Toma C, Torrico B, Cormand B, Serrano M, Sierra-March C, De Grandis E, Pineda M, Garcia-Cazorla A, Campistol-Plana J, Pascual JM and Artuch-Iriberri R.

    Cerebral Folate Deficiency Syndromes in Childhood Clinical, Analytical, and Etiologic Aspects

    Archives of Neurology . 68(5): 615-621. Nº de citas: 47

    [doi:10.1001/archneurol.2011.80]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de citas: 6

    [doi:10.3233/JAD-2011-110647]

  • Pérez-Dueñas B, Toma C, Ormazabal-Herrero A, Muchart-Lopez J, Sanmartí F, Bombau G, Serrano M, Garcia-Cazorla A, Cormand B and Artuch-Iriberri R.

    Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 795-802. Nº de citas: 47

    [doi:10.1007/s10545-010-9196-1]

  • De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de citas: 31

    [doi:10.1007/s10545-010-9200-9]

  • Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan-Gordo M, Quijada P, Martinez-Aragón A, Ormazabal-Herrero A, Blázquez A, Martín-Mateos MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch-Iriberri R and Pineda M.

    Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

    Mitochondrion . 10(5): 429-432. Nº de citas: 47

    [doi:10.1016/j.mito.2010.04.001]

  • Pons R, Serrano M, Ormazabal-Herrero A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B and Artuch-Iriberri R.

    Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation

    MOVEMENT DISORDERS . 25(8): 1086-1090. Nº de citas: 17

    [doi:10.1002/mds.23002]

  • Serrano M, Ormazabal-Herrero A, Anton-Lopez J, Aróstegui JI and Garcia-Cazorla A.

    Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome

    PEDIATRIC NEUROLOGY . 41(6): 448-450. Nº de citas: 7

    [doi:10.1016/j.pediatrneurol.2009.06.008]

  • López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal-Herrero A, Artuch-Iriberri R and Beyer K.

    Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Cordoba (southern Spain)

    JOURNAL OF NEUROLOGY . 256(11): 1816-1824. Nº de citas: 11

    [doi:10.1007/s00415-009-5198-z]

  • 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. Nº de citas: 14

    [doi:10.1136/jmg.2008.060632]