People / Staff

Rafael Artuch Iriberri

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Publications

  • Temudo T, Rios M, Prior C, Carrilho I, Santos M, Maciel P, Sequeiros J, Fonseca M, Monteiro J, Cabral P, Vieira JP, Ormazabal-Herrero A and Artuch-Iriberri R.

    Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

    BRAIN & DEVELOPMENT . 31(1): 46-51. Number of citations: 41

    [doi:10.1016/j.braindev.2008.05.003]

  • Fons-Estupina C, Sempere A, Arias A, López-Sala A, Poo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Arginine supplementation in four patients with X-linked creatine transporter defect

    JOURNAL OF INHERITED METABOLIC DISEASE . 31(6): 724-728. Number of citations: 44

    [doi:10.1007/s10545-008-0902-1]

  • Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell-Sampol L, Sierra-March C, Brandi-Tarrau N, García-Arumí E, Rissech M, Velasco D, Costa JA and Artuch-Iriberri R.

    Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 12(6): 470-475. Number of citations: 91

    [doi:10.1016/j.ejpn.2007.11.006]

  • 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]

  • Herrero-Martín MD, Pineda M, Briones P, López-Gallardo E, Carreras M, Benac M, Angel Idoate M, Vilaseca MA, Artuch-Iriberri R, López-Pérez MJ, Ruiz-Pesini E and Montoya J.

    A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).

    HUMAN MUTATION . 29(8): 112-22. Number of citations: 18

    [doi:10.1002/humu.20800]

  • Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch-Iriberri R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P and Salviati L.

    Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS . 372(1): 35-39. Number of citations: 55

    [doi:10.1016/j.bbrc.2008.04.172]

  • 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]

  • Gassió-Subirachs R, Artuch-Iriberri R, Vilaseca MA, Fusté E, Colomé-Roura R and Campistol-Plana J.

    Cognitive functions and the antioxidant system in phenylketonuric patients

    Neuropsychology . 22(4): 426-431. Number of citations: 32

    [doi:10.1037/0894-4105.22.4.426]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, Garcia-Cazorla A, Navas P and Artuch-Iriberri R.

    Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

    CLINICAL BIOCHEMISTRY . 41(9): 697-700. Number of citations: 60

    [doi:10.1016/j.clinbiochem.2008.03.007]

  • 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]