Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • Pérez-Dueñas B, Pujol J, Soriano-Mas C, Ortiz H, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.

    Global and regional volume changes in the brains of patients with phenylketonuria

    Neurology . 66(7): 1074-1078. Nº de cites: 36

    [doi:10.1212/01.wnl.0000204415.39853.4a]

  • Poo P, Arias A, Vilaseca MA, Ribes A, Artuch-Iriberri R, Sans A, Moreno A, Jakobs C and Salomons G.

    X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

    JOURNAL OF INHERITED METABOLIC DISEASE . 29(1): 220-223. Nº de cites: 64

    [doi:10.1007/s10545-006-0212-4]

  • Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.

    Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

    ANNALS OF NEUROLOGY . 59(2): 394-398. Nº de cites: 92

    [doi:10.1002/ana.20746]

  • Ormazabal-Herrero A, Artuch-Iriberri R, Vilaseca MA, Aracil A and Pineda M.

    Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: Treatment with folinic acid

    Neuropediatrics . 36(6): 380-385. Nº de cites: 32

    [doi:10.1055/s-2005-873078]

  • Ormazabal-Herrero A, Vilaseca MA, Pérez-Dueñas B, Lambruschini N, Gomez-Lopez L, Campistol-Plana J and Artuch-Iriberri R.

    Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment

    JOURNAL OF INHERITED METABOLIC DISEASE . 28(6): 863-870. Nº de cites: 20

    [doi:10.1007/s10545-005-0153-3]

  • Lambruschini N, Pérez-Dueñas B, Vilaseca MA, Mas A, Artuch-Iriberri R, Gassió-Subirachs R, Gomez-Lopez L, Gutiérrez A and Campistol-Plana J.

    Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy

    MOLECULAR GENETICS AND METABOLISM . 86: 54-60. Nº de cites: 81

    [doi:10.1016/j.ymgme.2005.05.014]

  • Millet P, Vilaseca MA, Valls C, Pérez-Dueñas B, Artuch-Iriberri R, Gomez-Lopez L, Lambruschini N and Campistol-Plana J.

    Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

    CLINICAL BIOCHEMISTRY . 38(12): 1127-1132. Nº de cites: 26

    [doi:10.1016/j.clinbiochem.2005.09.002]

  • Pérez-Dueñas B, Valls-Solé J, Fernández-Alvarez E, Conill J, Vilaseca MA, Artuch-Iriberri R and Campistol-Plana J.

    Characterization of tremor in phenylketonuric patients

    JOURNAL OF NEUROLOGY . 252(11): 1328-1334. Nº de cites: 26

    [doi:10.1007/s00415-005-0860-6]

  • Gassió-Subirachs R, Fusté E, López-Sala A, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.

    School performance in early and continuously treated phenylketonuria

    PEDIATRIC NEUROLOGY . 33(4): 267-271. Nº de cites: 55

    [doi:10.1016/j.pediatrneurol.2005.05.003]

  • Møller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal-Herrero A, Pineda M, Blau N, Güttler F and Artuch-Iriberri R.

    Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

    PRENATAL DIAGNOSIS . 25(8): 671-675. Nº de cites: 12

    [doi:10.1002/pd.1193]