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  • Ortez-Gonzalez CI, Duarte ST, Ormazabal-Herrero A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Alvarez E, Domingo-Jiménez R, De Castro P, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

    MOLECULAR GENETICS AND METABOLISM . 114(1): 34-40. Nº de citas: 13

    [doi:10.1016/j.ymgme.2014.10.014]

  • Quijada-Fraile P, O'Callaghan-Gordo M, Martín-Hernández E, Montero-Sanchez R, Garcia-Cazorla A, de Aragón A, Muchart-Lopez J, Málaga I, Pardo R, García-Gonzalez P, Jou-Munoz C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal-Herrero A, Pineda M, García-Silva MT and Artuch-Iriberri R.

    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    ORPHANET JOURNAL OF RARE DISEASES . 9: 217-217. Nº de citas: 31

    [doi:10.1186/s13023-014-0217-2]

  • Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.

    Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC PEDIATRICS . 14: 284-284. Nº de citas: 13

    [doi:10.1186/s12887-014-0284-5]

  • Casado-Rio M, Altimira-Queral L, Montero-Sanchez R, Castejón E, Nascimento-Osorio A, Pérez-Dueñas B, Ormazabal-Herrero A and Artuch-Iriberri R.

    A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

    ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 406(18): 4337-4343. Nº de citas: 10

    [doi:10.1007/s00216-014-7832-6]

  • Casado-Rio M, Molero M, Sierra-March C, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Analysis of cerebrospinal fluid ?-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

    Electrophoresis . 35(8): 1181-1187. Nº de citas: 11

    [doi:10.1002/elps.201300261]

  • Molero M, Fernández-Ureña S, Jordán-García I, Serrano M, Ormazabal-Herrero A, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

    PLoS One . 8(12): . Nº de citas: 21

    [doi:10.1371/journal.pone.0083237]

  • Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.

    Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

    Gene . 532(2): 302-306. Nº de citas: 12

    [doi:10.1016/j.gene.2013.08.036]

  • Tondo M, Calpena E, Arriola G, Sanz P, Martorell-Sampol L, Ormazabal-Herrero A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Pérez-Dueñas B, Pérez-Cerda C and Artuch-Iriberri R.

    Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

    MOLECULAR GENETICS AND METABOLISM . 110(3): 231-236. Nº de citas: 11

    [doi:10.1016/j.ymgme.2013.06.021]

  • Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    PLoS One . 8(7): . Nº de citas: 60

    [doi:10.1371/journal.pone.0068851]

  • Pons R, Syrengelas D, Youroukos S, Orfanou I, Dinopoulos A, Cormand B, Ormazabal-Herrero A, Garcia-Cazorla A, Serrano M and Artuch-Iriberri R.

    Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

    MOVEMENT DISORDERS . 28(8): 1058-1063. Nº de citas: 60

    [doi:10.1002/mds.25382]