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Publications

  • 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: 17

    [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: 41

    [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: 49

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

  • Velasco-Sánchez D, Gomez-Lopez L, Vilaseca MA, Serrano M, Massaguer S, Campistol-Plana J and Garcia-Cazorla A.

    Cerebellar Hemorrhage in a Patient with Propionic Acidemia

    Cerebellum . 8(3): 352-354. Number of citations: 10

    [doi:10.1007/s12311-009-0103-y]

  • Marín-Valencia I, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

    CLINICAL BIOCHEMISTRY . 41(16-17): 1306-1315. Number of citations: 38

    [doi:10.1016/j.clinbiochem.2008.08.077]

  • Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J, Torres RJ and Garcia-Cazorla A.

    Levodopa therapy in a Lesch-Nyhan disease patient:: Pathological, biochemical, neuroimaging, and therapeutic remarks

    MOVEMENT DISORDERS . 23(9): 1297-1300. Number of citations: 17

    [doi:10.1002/mds.21786]

  • Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.

    Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients

    MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Number of citations: 46

    [doi:10.1016/j.ymgme.2008.01.004]

  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Number of citations: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Artuch-Iriberri R and Cormand B.

    A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis

    MOLECULAR GENETICS AND METABOLISM . 92(3): 274-277. Number of citations: 28

    [doi:10.1016/j.ymgme.2007.07.004]