Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • 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: 37

    [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]

  • Fernández-Ayala DJ, Guerra I, Jiménez-Gancedo S, Cascajo MV, Gavilán A, Dimauro S, Hirano M, Briones P, Artuch-Iriberri R, De Cabo R, Salviati L and Navas P.

    Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies

    BMJ Open . 3(3): . Nº de citas: 18

    [doi:10.1136/bmjopen-2012-002524]

  • Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.

    5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

    JIMD Reports . 7: 123-128. Nº de citas: 11

    [doi:10.1007/8904_2012_166]

  • Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.

    cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

    JIMD Reports . 8: 57-62. Nº de citas: 6

    [doi:10.1007/8904_2012_161]

  • Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal-Herrero A and Artuch-Iriberri R.

    Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects

    DRUG DISCOVERY TODAY . 17(23-24): 1299-1306. Nº de citas: 34

    [doi:10.1016/j.drudis.2012.07.008]