Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch-Iriberri R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D and Balcells S.

    Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

    CLINICAL GENETICS . 78(5): 441-448. Nº de citas: 16

    [doi:10.1111/j.1399-0004.2010.01391.x]

  • Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan-Gordo M, Quijada P, Martinez-Aragón A, Ormazabal-Herrero A, Blázquez A, Martín-Mateos MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch-Iriberri R and Pineda M.

    Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

    Mitochondrion . 10(5): 429-432. Nº de citas: 47

    [doi:10.1016/j.mito.2010.04.001]

  • Pineda M, Montero-Sanchez R, Aracil A, O'Callaghan-Gordo M, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P and Artuch-Iriberri R.

    Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

    MOVEMENT DISORDERS . 25(9): 1262-1268. Nº de citas: 42

    [doi:10.1002/mds.23129]

  • Pons R, Serrano M, Ormazabal-Herrero A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B and Artuch-Iriberri R.

    Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation

    MOVEMENT DISORDERS . 25(8): 1086-1090. Nº de citas: 17

    [doi:10.1002/mds.23002]

  • Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Moreno J, Tondo M, Artuch-Iriberri R and Campistol-Plana J.

    Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin

    CLINICAL BIOCHEMISTRY . 43(4-5): 411-415. Nº de citas: 17

    [doi:10.1016/j.clinbiochem.2009.11.013]

  • Marín-Valencia I, Vilaseca MA, Thió M, Garcia-Cazorla A, Artuch-Iriberri R and Campistol-Plana J.

    Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 14(2): 125-130. Nº de citas: 10

    [doi:10.1016/j.ejpn.2009.05.001]

  • Fons-Estupina C, Arias A, Sempere A, Poo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch-Iriberri R, Campistol-Plana J and Ribes A.

    Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

    MOLECULAR GENETICS AND METABOLISM . 99(3): 296-299. Nº de citas: 21

    [doi:10.1016/j.ymgme.2009.10.186]

  • Serrano M, Martins C, Pérez-Dueñas B, Gomez-Lopez L, Murgui E, Fons-Estupina C, Garcia-Cazorla A, Artuch-Iriberri R, Jara F, Arranz JA, Häberle J, Briones P, Campistol-Plana J, Pineda M and Vilaseca MA.

    Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

    JOURNAL OF CHILD NEUROLOGY . 25(3): 352-358. Nº de citas: 27

    [doi:10.1177/0883073809340696]

  • Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, Garcia-Cazorla A, Vilaseca MA, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(1): 1-7. Nº de citas: 25

    [doi:10.1007/s10545-009-9004-y]

  • Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Fusté E, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Quality of dietary control in phenylketonuric patients and its relationship with general intelligence

    NUTRICION HOSPITALARIA . 25(1): 60-66. Nº de citas: 39

    [doi:10.3305/nh.2010.25.1.4482]