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Publicacions

  • 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 cites: 13

    [doi:10.1016/j.ymgme.2014.10.014]

  • Ortigoza-Escobar JD, Serrano M, Molero M, De Oyarzabal-Sanz AL, Rebollo M, Muchart-Lopez J, Artuch-Iriberri R, Rodríguez-Pombo P and Pérez-Dueñas B.

    Thiamine transporter-2 deficiency: outcome and treatment monitoring

    ORPHANET JOURNAL OF RARE DISEASES . 9: 92-92. Nº de cites: 47

    [doi:10.1186/1750-1172-9-92]

  • Caurín B, Serrano M, Fernández-Alvarez E, Campistol-Plana J and Pérez-Dueñas B.

    Environmental circumstances influencing tic expression in children

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 18(2): 157-162. Nº de cites: 22

    [doi:10.1016/j.ejpn.2013.10.002]

  • 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 cites: 23

    [doi:10.1371/journal.pone.0083237]

  • 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 cites: 60

    [doi:10.1002/mds.25382]

  • Molero M, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Pons R and Artuch-Iriberri R.

    Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 55(6): 559-566. Nº de cites: 40

    [doi:10.1111/dmcn.12116]

  • Pérez-Dueñas B, Serrano M, Rebollo M, Muchart-Lopez J, Gargallo-Burriel E, Dupuits C and Artuch-Iriberri R.

    Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency

    Pediatrics . 131(5): 1670-1675. Nº de cites: 54

    [doi:10.1542/peds.2012-2988]

  • Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal-Herrero A and Artuch-Iriberri R.

    Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

    DRUG DISCOVERY TODAY . 17(23-24): 1299-1306. Nº de cites: 36

    [doi:10.1016/j.drudis.2012.07.008]

  • Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Alvarez E, Muchart-Lopez J, Martorell-Sampol L, Artuch-Iriberri R, Obeso JA and Pérez-Dueñas B.

    Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

    MOVEMENT DISORDERS . 27(10): 1295-1303. Nº de cites: 33

    [doi:10.1002/mds.25008]

  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Nº de cites: 8

    [doi:10.1016/j.mito.2011.06.009]