Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • 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 cites: 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 cites: 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 cites: 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 cites: 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 cites: 48

    [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 cites: 33

    [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 cites: 2

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

  • 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 cites: 17

    [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 cites: 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 cites: 46

    [doi:10.1002/mds.23129]