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Publicaciones

  • 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]

  • 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 citas: 37

    [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 citas: 53

    [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 citas: 34

    [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 citas: 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 citas: 8

    [doi:10.1016/j.mito.2011.06.009]

  • Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.

    Hypokinetic-rigid syndrome in children and inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Nº de citas: 10

    [doi:10.1016/j.ejpn.2011.04.013]

  • Serrano M, Ormazabal-Herrero A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Pérez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

    CLINICAL BIOCHEMISTRY . 44(8-9): 742-744. Nº de citas: 7

    [doi:10.1016/j.clinbiochem.2011.03.136]

  • 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]