Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Sempere A, Fons-Estupina C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Creatine transporter deficiency in two adult patients with static encephalopathy

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 91-96. Nº de citas: 9

    [doi:10.1007/s10545-009-1083-2]

  • Quintana E, Sturiale L, Montero-Sanchez R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch-Iriberri R and Briones P.

    Secondary disorders of glycosylation in inborn errors of fructose metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 273-278. Nº de citas: 21

    [doi:10.1007/s10545-009-1219-4]

  • Sempere A, Fons-Estupina C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene

    MEDICINA CLINICA . 133(19): 745-749. Nº de citas: 7

    [doi:10.1016/j.medcli.2009.06.065]

  • Pérez-Dueñas B, Prior C, Ma Q, Fernández-Alvarez E, Setoain X, Artuch-Iriberri R and Pascual JM.

    Childhood Chorea With Cerebral Hypotrophy A Treatable GLUT1 Energy Failure Syndrome

    Archives of Neurology . 66(11): 1410-1414. Nº de citas: 24

    [doi:10.1001/archneurol.2009.236]

  • López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal-Herrero A, Artuch-Iriberri R and Beyer K.

    Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Cordoba (southern Spain)

    JOURNAL OF NEUROLOGY . 256(11): 1816-1824. Nº de citas: 11

    [doi:10.1007/s00415-009-5198-z]

  • Pérez-Dueñas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol-Plana J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch-Iriberri R and Vilaseca MA.

    Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(5): 444-451. Nº de citas: 43

    [doi:10.1016/j.ejpn.2008.09.002]

  • Quintana E, Montero-Sanchez R, Casado-Rio M, Navarro-Sastre A, Vilaseca MA, Briones P and Artuch-Iriberri R.

    Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

    JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 877(24): 2513-2518. Nº de citas: 20

    [doi:10.1016/j.jchromb.2009.06.031]

  • Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal-Herrero A, Vilaseca MA, Spaapen LJ, Palau F and Artuch-Iriberri R.

    Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

    JOURNAL OF MEDICAL GENETICS . 46(6): 407-411. Nº de citas: 14

    [doi:10.1136/jmg.2008.060632]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, Garcia-Cazorla A, Montoya J, Navas P and Artuch-Iriberri R.

    Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

    CLINICAL BIOCHEMISTRY . 42(7-8): 742-745. Nº de citas: 23

    [doi:10.1016/j.clinbiochem.2008.10.027]

  • Roche-Martinez A, Pérez-Dueñas B, Camacho Díaz JA, Torres RJ, Puig JG, Garcia-Cazorla A and Artuch-Iriberri R.

    Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome

    AMERICAN JOURNAL OF KIDNEY DISEASES . 53(4): 677-680. Nº de citas: 32

    [doi:10.1053/j.ajkd.2008.09.011]