Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • Artuch-Iriberri R, Moreno J, Puig R, Quintana M, Montero-Sanchez R, Ormazabal-Herrero A and Vilaseca MA.

    Laboratory diagnosis of rare diseases

    ANALES DEL SISTEMA SANITARIO DE NAVARRA . 31: 91-103. Nº de cites: 5

  • Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Artuch-Iriberri R and Cormand B.

    A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis

    MOLECULAR GENETICS AND METABOLISM . 92(3): 274-277. Nº de cites: 28

    [doi:10.1016/j.ymgme.2007.07.004]

  • Arias A, Corbella M, Fons-Estupina C, Sempere A, García-Villoria J, Ormazabal-Herrero A, Poo P, Pineda M, Vilaseca MA, Campistol-Plana J, Briones P, Pàmpols T, Salomons GS, Ribes A and Artuch-Iriberri R.

    Creatine transporter deficiency:: Prevalence among patients with mental retardation and pitfalls in metabolite screening

    CLINICAL BIOCHEMISTRY . 40(16-17): 1328-1331. Nº de cites: 52

    [doi:10.1016/j.clinbiochem.2007.07.010]

  • Rice G, Patrick T, Parmar R, Taylor CF, Aeby A, Aicardi J, Artuch-Iriberri R, Montalto SA, Bacino CA, Barroso B, Baxter P, Benko WS, Bergmann C, Bertini E, Biancheri R, Blair EM, Blau N, Bonthron DT, Briggs T, Brueton LA, Brunner HG, Burke CJ, Carr IM, Carvalho DR, Chandler KE, Christen HJ, Corry PC, Cowan FM, Cox H, D'Arrigo S, Dean J, De Laet C, De Praeter C, Dery C, Ferrie CD, Flintoff K, Frints SG, Garcia-Cazorla A, Gener B, Goizet C, Goutieres F, Green AJ, Guet A, Hamel BC, Hayward BE, Heiberg A, Hennekam RC, Husson M, Jackson AP, Jayatunga R, Jiang YH, Kant SG, Kao A, King MD, Kingston HM, Klepper J, van der Knaap MS, Kornberg AJ, Kotzot D, Kratzer W, Lacombe D, Lagae L, Landrieu PG, Lanzi G, Leitch A, Lim MJ, Livingston JH, Lourenco CM, Lyall EG, Lynch SA, Lyons MJ, Marom D, McClure JP, McWilliam R, Melancon SB, Mewasingh LD, Moutard ML, Nischal KK, Ostergaard JR, Prendiville J, Rasmussen M, Rogers RC, Roland D, Rosser EM, Rostasy K, Roubertie A, Sanchis A, Schiffmann R, Scholl-Burgi S, Seal S, Shalev SA, Corcoles CS, Sinha GP, Soler D, Spiegel R, Stephenson JB, Tacke U, Tan TY, Till M, Tolmie JL, Tomlin P, Vagnarelli F, Valente EM, Van Coster RN, Van der Aa N, Vanderver A, Vles JS, Voit T, Wassmer E, Weschke B, Whiteford ML, Willemsen MA, Zankl A, Zuberi SM, Orcesi S, Fazzi E, Lebon P and Crow YJ.

    Clinical and molecular phenotype of Aicardi-Goutieres syndrome

    AMERICAN JOURNAL OF HUMAN GENETICS . 81(4): 713-725. Nº de cites: 359

    [doi:10.1086/521373]

  • Serrano M, Lizarraga I, Reiss J, Dias AP, Pérez-Dueñas B, Vilaseca MA, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.

    Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

    PEDIATRIC RADIOLOGY . 37(10): 1043-1046. Nº de cites: 11

    [doi:10.1007/s00247-007-0558-2]

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

    Secondary abnormalities of neurotransmitters in infants with neurological disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 49(10): 740-744. Nº de cites: 36

    [doi:10.1111/j.1469-8749.2007.00740.x]

  • Ramaekers VT, Sequeira JM, Artuch-Iriberri R, Blau N, Temudo T, Ormazabal-Herrero A, Pineda M, Aracil A, Roelens F, Laccone F and Quadros EV.

    Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome

    Neuropediatrics . 38(4): 179-183. Nº de cites: 47

    [doi:10.1055/s-2007-991148]

  • Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Artuch-Iriberri R, Coroleu W, Krauel Vidal X, Campistol-Plana J and Garcia-Cazorla A.

    Perinatal asphyxia may cause reduction in csf dopamine metabolite concentrations

    Neurology . 69(3): 311-313. Nº de cites: 5

    [doi:10.1212/01.wnl.0000265855.13026.dd]

  • López-Laso E, Camino R, Mateos ME, Pérez-Navero JL, Ochoa JJ, Lao-Villadóniga JI, Ormazabal-Herrero A and Artuch-Iriberri R.

    Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 256(1-2): 90-93. Nº de cites: 13

    [doi:10.1016/j.jns.2007.02.007]

  • Campistol-Plana J, Arias-Dimas A, Poo P, Pineda M, Hoffman M, Vilaseca MA, Artuch-Iriberri R and Ribes A.

    Cerebral creatine transporter deficiency:: An infradiagnosed neurometabolic disease

    REVISTA DE NEUROLOGIA . 44(6): 343-347. Nº de cites: 8

    [doi:10.33588/rn.4406.2006389]