Personas / Equipo Humano

Rafael Artuch Iriberri

Buscador de publicaciones

Publicaciones

  • Gömez L, Garcia-Cazorla A, Gutiérrez A, Artuch-Iriberri R, Varea V, Martín J, Pinillos S and Vilaseca MA.

    Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance

    JOURNAL OF INHERITED METABOLIC DISEASE . 29(5): 687-687. Nº de citas: 9

    [doi:10.1007/s10545-006-0236-9]

  • Arias A, Ormazabal-Herrero A, Moreno J, González B, Vilaseca MA, García-Villoria J, Pàmpols T, Briones P, Artuch-Iriberri R and Ribes A.

    Methods for the diagnosis of creatine deficiency syndromes:: A comparative study

    JOURNAL OF NEUROSCIENCE METHODS . 156(1-2): 305-309. Nº de citas: 30

    [doi:10.1016/j.jneumeth.2006.03.005]

  • López-Laso E, Ormazabal-Herrero A, Camino R, Gascón FJ, Ochoa JJ, Mateos ME, Muñoz MJ, Pérez-Navero JL, Lao JI, Vilaseca MA and Artuch-Iriberri R.

    Oral phenylalanine loading test for the diagnosis of dominant guanosine triphosphate cyclohydrolase 1 deficiency

    CLINICAL BIOCHEMISTRY . 39(9): 893-897. Nº de citas: 7

    [doi:10.1016/j.clinbiochem.2006.03.002]

  • 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 citas: 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 citas: 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 citas: 73

    [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 citas: 6

    [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 citas: 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 citas: 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 citas: 90

    [doi:10.1002/ana.20746]