Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • 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 cites: 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 cites: 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 cites: 34

    [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 cites: 45

    [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 cites: 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 cites: 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 cites: 50

    [doi:10.1001/archneurol.2011.80]

  • Campistol-Plana J, Gassió-Subirachs R, Artuch-Iriberri R and Vilaseca MA.

    Neurocognitive function in mild hyperphenylalaninemia

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 53(5): 405-408. Nº de cites: 26

    [doi:10.1111/j.1469-8749.2010.03869.x]

  • Duarte ST, Ortez-Gonzalez CI, Pérez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(2): 523-528. Nº de cites: 7

    [doi:10.1007/s10545-010-9256-6]

  • Velasco-Sánchez D, Aracil A, Montero-Sanchez R, Mas A, Jiménez L, O'Callaghan-Gordo M, Tondo M, Capdevila A, Blanch J, Artuch-Iriberri R and Pineda M.

    Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia

    Cerebellum . 10(1): 1-8. Nº de cites: 126

    [doi:10.1007/s12311-010-0212-7]