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Publicacions

  • 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]

  • Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray JM, Ribes A, Kalkanoglu HS, Lund AM, Merinero B, Wajner M, Troncoso M, Williams M, Walter JH, Campistol-Plana J, Martí-Herrero M, Caswill M, Burlina AB, Lagler F, Maier EM, Schwahn B, Tokatli A, Dursun A, Coskun T, Chalmers RA, Koeller DM, Zschocke J, Christensen E, Burgard P and Hoffmann GF.

    Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

    PEDIATRIC RESEARCH . 59(6): 840-847. Nº de cites: 218

    [doi:10.1203/01.pdr.0000219387.79887.86]

  • 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: 36

    [doi:10.1212/01.wnl.0000204415.39853.4a]

  • 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]

  • 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]

  • Millet P, Vilaseca MA, Valls C, Pérez-Dueñas B, Artuch-Iriberri R, Gomez-Lopez L, Lambruschini N and Campistol-Plana J.

    Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria?

    CLINICAL BIOCHEMISTRY . 38(12): 1127-1132. Nº de cites: 26

    [doi:10.1016/j.clinbiochem.2005.09.002]

  • Pérez-Dueñas B, Valls-Solé J, Fernández-Alvarez E, Conill J, Vilaseca MA, Artuch-Iriberri R and Campistol-Plana J.

    Characterization of tremor in phenylketonuric patients

    JOURNAL OF NEUROLOGY . 252(11): 1328-1334. Nº de cites: 26

    [doi:10.1007/s00415-005-0860-6]

  • Gassió-Subirachs R, Fusté E, López-Sala A, Artuch-Iriberri R, Vilaseca MA and Campistol-Plana J.

    School performance in early and continuously treated phenylketonuria

    PEDIATRIC NEUROLOGY . 33(4): 267-271. Nº de cites: 55

    [doi:10.1016/j.pediatrneurol.2005.05.003]

  • Garcia-Cazorla A, Ormazabal-Herrero A, Artuch-Iriberri R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E and Campistol-Plana J.

    Inborn errors of neurotransmitters in neuropaediatrics

    REVISTA DE NEUROLOGIA . 41(2): 99-108. Nº de cites: 5

    [doi:10.33588/rn.4102.2004377]

  • Gassió-Subirachs R, Artuch-Iriberri R, Vilaseca MA, Fusté E, Boix Lluch C, Sans A and Campistol-Plana J.

    Cognitive functions in classic phenylketonuria and mild hyperphenyl-alaninaemia:: experience in a paediatric population

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 47(7): 443-448. Nº de cites: 78

    [doi:10.1017/S0012162205000861]