Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • 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: 44

    [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]

  • 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 citas: 24

    [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 citas: 6

    [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 citas: 124

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

  • Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch-Iriberri R, Campistol-Plana J, Ugarte M and Rodríguez-Pombo P.

    Defining the Pathogenicity of Creatine Deficiency Syndrome

    HUMAN MUTATION . 32(3): 282-291. Nº de citas: 27

    [doi:10.1002/humu.21421]

  • Vilaseca MA, Gomez-Lopez L, Lambruschini N, Gutiérrez A, García R, Meavilla S, Moreno J and Artuch-Iriberri R.

    Long-chain polyunsaturated fatty acid concentration in patients with inborn errors of metabolism

    NUTRICION HOSPITALARIA . 26(1): 128-136. Nº de citas: 2

    [doi:10.3305/nh.2011.26.1.4927]

  • Pérez B, Briones P, Quelhas D, Artuch-Iriberri R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M and Pérez-Cerdá C.

    The Molecular Landscape of Phosphomannose Mutase Deficiency in Iberian Peninsula: Identification of 15 Population-Specific Mutations

    JIMD Reports . 1: 117-123. Nº de citas: 15

    [doi:10.1007/8904_2011_26]