Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • 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]

  • 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]

  • 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]

  • Espinós C, Garcia-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca MA, Pérez-Dueñas B, Kožich V, Palau F and Artuch-Iriberri R.

    Ancient origin of the CTH alelle carrying the c. 200C>T (p.T67I) variant in patients with cystathioninuria

    CLINICAL GENETICS . 78(6): 554-559. Nº de citas: 10

    [doi:10.1111/j.1399-0004.2010.01431.x]

  • Pérez-Dueñas B, Toma C, Ormazabal-Herrero A, Muchart-Lopez J, Sanmartí F, Bombau G, Serrano M, Garcia-Cazorla A, Cormand B and Artuch-Iriberri R.

    Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 795-802. Nº de citas: 47

    [doi:10.1007/s10545-010-9196-1]

  • De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de citas: 31

    [doi:10.1007/s10545-010-9200-9]

  • Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Vilaseca MA and Artuch-Iriberri R.

    The monitoring of trace elements in blood samples from patients with inborn errors of metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 33: 43-49. Nº de citas: 2

    [doi:10.1007/s10545-009-9015-8]