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  • Gassió-Subirachs R, Artuch-Iriberri R, Vilaseca MA, Fusté E, Colomé-Roura R and Campistol-Plana J.

    Cognitive functions and the antioxidant system in phenylketonuric patients

    Neuropsychology . 22(4): 426-431. Nº de citas: 29

    [doi:10.1037/0894-4105.22.4.426]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, Garcia-Cazorla A, Navas P and Artuch-Iriberri R.

    Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

    CLINICAL BIOCHEMISTRY . 41(9): 697-700. Nº de citas: 58

    [doi:10.1016/j.clinbiochem.2008.03.007]

  • Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.

    Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients

    MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Nº de citas: 46

    [doi:10.1016/j.ymgme.2008.01.004]

  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Nº de citas: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Ruiz A, García-Villoria J, Ormazabal-Herrero A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch-Iriberri R, Vilaseca MA and Ribes A.

    A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency

    MOLECULAR GENETICS AND METABOLISM . 93(2): 216-218. Nº de citas: 50

    [doi:10.1016/j.ymgme.2007.10.003]

  • Duarte S, Sanmarti F, Gonzalez V, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.

    Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

    BRAIN & DEVELOPMENT . 30(2): 106-111. Nº de citas: 18

    [doi:10.1016/j.braindev.2007.06.009]

  • 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 citas: 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 citas: 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 citas: 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 citas: 359

    [doi:10.1086/521373]