Persones / Equip Humà

Aida Ormazabal Herrero

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 31

    [doi:10.1016/j.jneumeth.2006.03.005]

  • López-Laso E, Ormazabal-Herrero A, Camino R, Gascón FJ, Ochoa JJ, Mateos ME, Muñoz MJ, Pérez-Navero JL, Lao JI, Vilaseca MA and Artuch-Iriberri R.

    Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

    CLINICAL BIOCHEMISTRY . 39(9): 893-897. Nº de cites: 7

    [doi:10.1016/j.clinbiochem.2006.03.002]

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

    Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients:: Reference values for a paediatric population

    CLINICA CHIMICA ACTA . 371(1-2): 159-162. Nº de cites: 44

    [doi:10.1016/j.cca.2006.03.004]

  • Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

    MEDICINA CLINICA . 127(3): 81-85. Nº de cites: 7

    [doi:10.1157/13090262]

  • Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.

    Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

    ANNALS OF NEUROLOGY . 59(2): 394-398. Nº de cites: 92

    [doi:10.1002/ana.20746]