Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez-Dueñas B, Medrano C, García-Alix A, Artuch-Iriberri R, Briones P and Pérez B.

    A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

    JOURNAL OF PEDIATRICS . 183: 170-170. Nº de citas: 22

    [doi:10.1016/j.jpeds.2016.12.060]

  • Yubero-Siles D, Allen G, Artuch-Iriberri R and Montero-Sanchez R.

    The Value of Coenzyme Q10 Determination in Mitochondrial Patients

    Journal of Clinical Medicine . 6(4): 37-37. Nº de citas: 18

    [doi:10.3390/jcm6040037]

  • Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M and Opladen T.

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 12: 12-12. Nº de citas: 146

    [doi:10.1186/s13023-016-0522-z]

  • Emperador S, Bayona-Bafaluy MP, Fernández-Marmiesse A, Pineda M, Felgueroso B, López-Gallardo E, Artuch-Iriberri R, Roca I, Ruiz-Pesini E, Couce ML and Montoya J.

    Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy

    EUROPEAN JOURNAL OF HUMAN GENETICS . 25(1): 153-156. Nº de citas: 17

    [doi:10.1038/ejhg.2016.124]

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Nº de citas: 11

    [doi:10.1038/s41598-016-0008-1]

  • Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R and Garcia-Cazorla A.

    Pyridoxal Phosphate Supplementation in Neuropediatric Disorders

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 351-358. Nº de citas: 4

    [doi:10.1016/j.spen.2016.11.009]

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

    Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 273-284. Nº de citas: 8

    [doi:10.1016/j.spen.2016.11.002]

  • Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.

    Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Nº de citas: 21

    [doi:10.1016/j.spen.2016.11.005]

  • González MJ, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Impaired Neurotransmission in Early-treated Phenylketonuria Patients

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 332-340. Nº de citas: 19

    [doi:10.1016/j.spen.2016.11.007]

  • Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.

    Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Nº de citas: 49

    [doi:10.1016/j.mito.2016.06.007]