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Publications

  • 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. Number of citations: 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. Number of citations: 31

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

  • Serrano M, Vilaseca MA and Campistol-Plana J.

    Inborn errors of metabolism and sports

    APUNTS SPORTS MEDICINE . 45(167): 185-189.

  • 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. Number of citations: 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. Number of citations: 17

    [doi:10.1002/mds.23002]

  • Serrano M, Martins C, Pérez-Dueñas B, Gomez-Lopez L, Murgui E, Fons-Estupina C, Garcia-Cazorla A, Artuch-Iriberri R, Jara F, Arranz JA, Häberle J, Briones P, Campistol-Plana J, Pineda M and Vilaseca MA.

    Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

    JOURNAL OF CHILD NEUROLOGY . 25(3): 352-358. Number of citations: 27

    [doi:10.1177/0883073809340696]

  • 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. Number of citations: 7

    [doi:10.1016/j.pediatrneurol.2009.06.008]

  • Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, Garcia-Cazorla A, Serrano M, Pineda M and Campistol-Plana J.

    Brain injury in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(6): 534-540. Number of citations: 16

    [doi:10.1016/j.ejpn.2008.12.002]

  • Garcia-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Fernández-Alvarez E, Colomer J, DiMauro S and Hoffmann GF.

    Inborn errors of metabolism and motor disturbances in children

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 618-629. Number of citations: 40

    [doi:10.1007/s10545-009-1194-9]

  • Garcia-Cazorla A, Wolf NI, Serrano M, Moog U, Pérez-Dueñas B, Poo P, Pineda M, Campistol-Plana J and Hoffmann GF.

    Mental retardation and inborn errors of metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 597-608. Number of citations: 48

    [doi:10.1007/s10545-009-0922-5]