Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • López-Gallardo E, Emperador S, Solano A, Llobet L, Martín-Navarro A, López-Pérez MJ, Briones P, Pineda M, Artuch-Iriberri R, Barraquer E, Jericó I, Ruiz-Pesini E and Montoya J.

    Expanding the clinical phenotypes of MT-ATP6 mutations

    HUMAN MOLECULAR GENETICS . 23(23): 6191-6200. Nº de cites: 33

    [doi:10.1093/hmg/ddu339]

  • Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.

    Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC PEDIATRICS . 14: 284-284. Nº de cites: 15

    [doi:10.1186/s12887-014-0284-5]

  • Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero M, Vidal A, Huertas D and Esteller M.

    Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor

    NEUROPSYCHOPHARMACOLOGY . 39(12): 2846-2856. Nº de cites: 25

    [doi:10.1038/npp.2014.136]

  • Yubero-Siles D, Montero-Sanchez R, Artuch-Iriberri R, Land JM, Heales SJ and Hargreaves IP.

    Biochemical diagnosis of coenzyme q10 deficiency.

    Molecular syndromology . 5(3-4): 147-55. Nº de cites: 33

    [doi:10.1159/000362390]

  • Casado-Rio M, Altimira-Queral L, Montero-Sanchez R, Castejón E, Nascimento-Osorio A, Pérez-Dueñas B, Ormazabal-Herrero A and Artuch-Iriberri R.

    A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases

    ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 406(18): 4337-4343. Nº de cites: 11

    [doi:10.1007/s00216-014-7832-6]

  • Ortigoza-Escobar JD, Serrano M, Molero M, De Oyarzabal-Sanz AL, Rebollo M, Muchart-Lopez J, Artuch-Iriberri R, Rodríguez-Pombo P and Pérez-Dueñas B.

    Thiamine transporter-2 deficiency: outcome and treatment monitoring

    ORPHANET JOURNAL OF RARE DISEASES . 9: 92-92. Nº de cites: 47

    [doi:10.1186/1750-1172-9-92]

  • Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.

    Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

    HUMAN MUTATION . 35(4): 470-477. Nº de cites: 63

    [doi:10.1002/humu.22513]

  • Ulate-Campos A, Fons-Estupina C, Artuch-Iriberri R, Castejón E, Martorell-Sampol L, Ozelius L, Pascual J and Campistol-Plana J.

    Alternating Hemiplegia of Childhood With a de Novo Mutation in ATP1A3 and Changes in SLC2A1 Responsive to a Ketogenic Diet

    PEDIATRIC NEUROLOGY . 50(4): 377-379. Nº de cites: 30

    [doi:10.1016/j.pediatrneurol.2013.11.017]

  • Casado-Rio M, Molero M, Sierra-March C, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Analysis of cerebrospinal fluid ?-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

    Electrophoresis . 35(8): 1181-1187. Nº de cites: 11

    [doi:10.1002/elps.201300261]

  • Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch-Iriberri R, Garcia-Cazorla A, Briones P and Ribes A.

    Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    HUMAN MOLECULAR GENETICS . 23(7): 1907-1915. Nº de cites: 63

    [doi:10.1093/hmg/ddt585]