Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Nº de citas: 4

    [doi:10.1038/s41598-019-45674-2]

  • Zouvelou V, Yubero-Siles D, Apostolakopoulou L, Kokkinou E, Bilanakis M, Dalivigka Z, Nikas I, Kollia E, Pérez-Dueñas B, Macaya A, Marcé-Grau A, Voutetakis A, Anagnostopoulou K, Kekou K, Sofocleus C, Veltra D, Kokkinis X, Fryssira H, Torres RJ, Amstrong J, Santorelli FM, Artuch-Iriberri R and Pons R.

    The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(3): 427-437. Nº de citas: 22

    [doi:10.1016/j.ejpn.2019.02.001]

  • Martinez-Monseny T, Bolasell M, Callejón L, Cuadras-Palleja D, Freniche V, Itzep DC, Gassiot S, Arango P, Casas-Alba D, de la Morena E, Corral J, Montero-Sanchez R, Pérez-Cerdá C, Pérez-Dueñas B, Artuch-Iriberri R, Jaeken J, and the CDG Spanish Consortium and Serrano M.

    AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2-CDG)

    ANNALS OF NEUROLOGY . 85(5): 740-751. Nº de citas: 52

    [doi:10.1002/ana.25457]

  • Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B and Serrano M.

    From gestalt to gene: early predictive dysmorphic features of PMM2-CDG

    JOURNAL OF MEDICAL GENETICS . 56(4): 236-245. Nº de citas: 17

    [doi:10.1136/jmedgenet-2018-105588]

  • Baide-Mairena H, Gaudó P, Marti-Sanchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch-Iriberri R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya C, Bayona-Bafaluy MP and Pérez-Dueñas B.

    Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

    MOLECULAR GENETICS AND METABOLISM . 126(3): 250-258. Nº de citas: 16

    [doi:10.1016/j.ymgme.2019.01.001]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de citas: 28

    [doi:10.1038/s41598-018-37542-2]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Nº de citas: 13

    [doi:10.3390/jcm8010068]

  • van Kuilenburg ABP, Meijer J, Meinsma R, Pérez-Dueñas B, Alders M, Bhuiyan ZA, Artuch-Iriberri R and Hennekam RCM.

    Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.

    JIMD Reports . 45: 65-69. Nº de citas: 2

    [doi:10.1007/8904_2018_138]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Nº de citas: 10

    [doi:10.1007/s10545-018-0224-x]

  • Yubero-Siles D and Artuch-Iriberri R.

    NGS for Metabolic Disease Diagnosis.

    ejifcc . 29(3): 227-229. Nº de citas: 3