Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • 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 cites: 39

    [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 cites: 54

    [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 cites: 49

    [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 cites: 20

    [doi:10.1136/bmjopen-2012-002524]

  • 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 cites: 6

    [doi:10.1007/8904_2012_161]

  • 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 cites: 13

    [doi:10.1007/8904_2012_166]

  • 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 cites: 36

    [doi:10.1016/j.drudis.2012.07.008]

  • Sanchez-Masian DF, Artuch-Iriberri R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado-Rio M, Fernandez M, Recio A and Lujan A.

    L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers

    JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION . 48(5): 366-371. Nº de cites: 16

    [doi:10.5326/JAAHA-MS-5967]

  • Serrano M, Rebollo M, Depienne C, Rastetter A, Fernández-Alvarez E, Muchart-Lopez J, Martorell-Sampol L, Artuch-Iriberri R, Obeso JA and Pérez-Dueñas B.

    Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

    MOVEMENT DISORDERS . 27(10): 1295-1303. Nº de cites: 33

    [doi:10.1002/mds.25008]

  • Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

    REVISTA DE NEUROLOGIA . 55(4): 200-206. Nº de cites: 3

    [doi:10.33588/rn.5504.2012038]