Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 50

    [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. Nº de cites: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Ruiz A, García-Villoria J, Ormazabal-Herrero A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch-Iriberri R, Vilaseca MA and Ribes A.

    A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency

    MOLECULAR GENETICS AND METABOLISM . 93(2): 216-218. Nº de cites: 50

    [doi:10.1016/j.ymgme.2007.10.003]

  • Duarte S, Sanmarti F, Gonzalez V, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.

    Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

    BRAIN & DEVELOPMENT . 30(2): 106-111. Nº de cites: 20

    [doi:10.1016/j.braindev.2007.06.009]

  • Artuch-Iriberri R, Moreno J, Puig R, Quintana M, Montero-Sanchez R, Ormazabal-Herrero A and Vilaseca MA.

    Laboratory diagnosis of rare diseases

    ANALES DEL SISTEMA SANITARIO DE NAVARRA . 31: 91-103. Nº de cites: 6