Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.

    Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

    Gene . 532(2): 302-306. Nº de citas: 12

    [doi:10.1016/j.gene.2013.08.036]

  • Tondo M, Calpena E, Arriola G, Sanz P, Martorell-Sampol L, Ormazabal-Herrero A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Pérez-Dueñas B, Pérez-Cerda C and Artuch-Iriberri R.

    Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency

    MOLECULAR GENETICS AND METABOLISM . 110(3): 231-236. Nº de citas: 11

    [doi:10.1016/j.ymgme.2013.06.021]

  • Alonso A, Merchán P, Sandoval JE, Sánchez-Arrones L, Artuch-Iriberri R, Ferrán JL, Martínez-de-la-Torre M and Puelles L.

    Development of the serotonergic cells in murine raphe nuclei and their relations with rhombomeric domains

    BRAIN STRUCTURE & FUNCTION . 218(5): 1229-1277. Nº de citas: 96

    [doi:10.1007/s00429-012-0456-8]

  • Matos IV, Castejón E, Meavilla S, O'Callaghan-Gordo M, Garcia-Villoria J, López-Sala A, Ribes A, Artuch-Iriberri R and Garcia-Cazorla A.

    Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

    MOLECULAR GENETICS AND METABOLISM . 109(4): 360-365. Nº de citas: 29

    [doi:10.1016/j.ymgme.2013.05.007]

  • Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.

    Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

    PLoS One . 8(7): . Nº de citas: 60

    [doi:10.1371/journal.pone.0068851]

  • Montero-Sanchez R, Grazina M, López-Gallardo E, Montoya J, Briones P, Navarro-Sastre A, Land JM, Hargreaves IP, Artuch-Iriberri R and Jimenez-Mallebrera C.

    Coenzyme Q(10) deficiency in mitochondrial DNA depletion syndromes

    Mitochondrion . 13(4): 337-341. Nº de citas: 46

    [doi:10.1016/j.mito.2013.04.001]

  • 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: 38

    [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]

  • Sarrión P, Sangorrin A, Urreizti R, Delgado A, Artuch-Iriberri R, Martorell-Sampol L, Armstrong-Moron J, Anton-Lopez J, Torner-Rubies F, Vilaseca MA, Nevado J, Lapunzina P, Asteggiano CG, Balcells S and Grinberg D.

    Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

    SCIENTIFIC REPORTS . 3: 1346-1346. Nº de citas: 45

    [doi:10.1038/srep01346]