Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • Arias-Dimas A, Vilaseca MA, Artuch-Iriberri R, Ribes A and Campistol-Plana J.

    Diagnosis and treatment of brain creatine deficiency syndromes

    REVISTA DE NEUROLOGIA . 43(5): 302-308. Nº de cites: 18

    [doi:10.33588/rn.4305.2005519]

  • Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol-Plana J and Artuch-Iriberri R.

    Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients:: Reference values for a paediatric population

    CLINICA CHIMICA ACTA . 371(1-2): 159-162. Nº de cites: 44

    [doi:10.1016/j.cca.2006.03.004]

  • Artuch-Iriberri R, Brea-Calvo G, Briones P, Aracil A, Galván M, Espinós C, Corral J, Volpini V, Ribes A, Andreu AL, Palau F, Sánchez-Alcázar JA, Navas P and Pineda M.

    Cerebellar ataxia with coenzyme Q10 deficiency:: Diagnosis and follow-up after coenzyme Q10 supplementation

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 246(1-2): 153-158. Nº de cites: 75

    [doi:10.1016/j.jns.2006.01.021]

  • Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

    MEDICINA CLINICA . 127(3): 81-85. Nº de cites: 7

    [doi:10.1157/13090262]

  • 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: 35

    [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]

  • 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]

  • 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]