Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Fons-Estupina C, Campistol-Plana J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch-Iriberri R, Schyns T, Vavassori R and Poncelin D.

    Alternating hemiplegia of childhood: Metabolic studies in the largest European series of patients

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 16(1): 10-14. Nº de citas: 18

    [doi:10.1016/j.ejpn.2011.08.006]

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

    JIMD Reports . 4: 13-16. Nº de citas: 4

    [doi:10.1007/8904_2011_41]

  • López-Laso E, Sánchez-Raya A, Moriana JA, Martínez-Gual E, Camino-León R, Mateos-González ME, Pérez-Navero JL, Ochoa-Sepúlveda JJ, Ormazabal-Herrero A, Opladen T, Klein C, Lao-Villadóniga JI, Beyer K and Artuch-Iriberri R.

    Neuropsychiatric symptoms and intelligence quotient in autosomal dominant Segawa disease

    JOURNAL OF NEUROLOGY . 258(12): 2155-2162. Nº de citas: 24

    [doi:10.1007/s00415-011-6079-9]

  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Nº de citas: 8

    [doi:10.1016/j.mito.2011.06.009]

  • Delgadillo V, O'Callaghan-Gordo M, Artuch-Iriberri R, Montero-Sanchez R and Pineda M.

    Genistein supplementation in patients affected by Sanfilippo disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(5): 1039-1044. Nº de citas: 77

    [doi:10.1007/s10545-011-9342-4]

  • Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazabal-Herrero A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch-Iriberri R, Ugarte M and Desviat LR.

    Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant

    Neurogenetics . 12(3): 183-191. Nº de citas: 32

    [doi:10.1007/s10048-011-0279-4]

  • Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch-Iriberri R, Desviat LR, Ugarte M and Pérez B.

    Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(4): 929-939. Nº de citas: 42

    [doi:10.1007/s10545-011-9328-2]

  • Serrano M, Ormazabal-Herrero A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Pérez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

    CLINICAL BIOCHEMISTRY . 44(8-9): 742-744. Nº de citas: 7

    [doi:10.1016/j.clinbiochem.2011.03.136]

  • Ormazabal-Herrero A, Pérez-Dueñas B, Sierra-March C, Urreitzi R, Montoya J, Serrano M, Campistol-Plana J, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

    CLINICAL BIOCHEMISTRY . 44(8-9): 719-721. Nº de citas: 12

    [doi:10.1016/j.clinbiochem.2011.03.002]

  • Pérez-Dueñas B, Ormazabal-Herrero A, Toma C, Torrico B, Cormand B, Serrano M, Sierra-March C, De Grandis E, Pineda M, Garcia-Cazorla A, Campistol-Plana J, Pascual JM and Artuch-Iriberri R.

    Cerebral Folate Deficiency Syndromes in Childhood Clinical, Analytical, and Etiologic Aspects

    Archives of Neurology . 68(5): 615-621. Nº de citas: 47

    [doi:10.1001/archneurol.2011.80]