Search publications

Publications

  • Gassió-Subirachs R, González MJ, Sans-Capdevila O, Artuch-Iriberri R, Sierra-March C, Ormazabal-Herrero A, Cuadras-Palleja D and Campistol-Plana J.

    Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(5): 685-691. Number of citations: 1

    [doi:10.1016/j.ejpn.2019.08.005]

  • González MJ, Rebollo M, Ripollés P, Gassió-Subirachs R, Ormazabal-Herrero A, Sierra-March C, Roura RC, Artuch-Iriberri R and Campistol-Plana J.

    White matter microstructural damage in early treated phenylketonuric patients.

    ORPHANET JOURNAL OF RARE DISEASES . 13(1): 188-188. Number of citations: 8

    [doi:10.1186/s13023-018-0912-5]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M, Armstrong-Moron J and Rett Working Group.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    SCIENTIFIC REPORTS . 7: 12288-12288. Number of citations: 12

    [doi:10.1038/s41598-017-11620-3]

  • González MJ, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Impaired Neurotransmission in Early-treated Phenylketonuria Patients

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 332-340. Number of citations: 9

    [doi:10.1016/j.spen.2016.11.007]

  • Huijbregts SC, Gassió-Subirachs R and Campistol-Plana J.

    Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria

    MOLECULAR GENETICS AND METABOLISM . 110(S): 25-30. Number of citations: 14

    [doi:10.1016/j.ymgme.2013.10.001]

  • Gutiérrez-Mata AP, Vilaseca MA, Capdevila-Cirera A, Vidal-Oller M, Alonso-Colmenero I, Colomé-Roura R, López-Sala A, Lambruschini N, Gutiérrez A, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Neurological, neuropsychological, and ophtalmological evolution after one year of docosahexaenoic acid supplementation in phenylketonuric patients

    REVISTA DE NEUROLOGIA . 55(4): 200-206. Number of citations: 3

    [doi:10.33588/rn.5504.2012038]

  • Campistol-Plana J, Gassió-Subirachs R, Artuch-Iriberri R and Vilaseca MA.

    Neurocognitive function in mild hyperphenylalaninemia

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 53(5): 405-408. Number of citations: 17

    [doi:10.1111/j.1469-8749.2010.03869.x]

  • González MJ, Gutiérrez AP, Gassió-Subirachs R, Fusté ME, Vilaseca MA and Campistol-Plana J.

    Neurological complications and behavioral problems in patients with phenylketonuria in a Follow-up Unit

    MOLECULAR GENETICS AND METABOLISM . 104(S): 73-79. Number of citations: 21

    [doi:10.1016/j.ymgme.2011.07.015]

  • Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Fusté E, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Quality of dietary control in phenylketonuric patients and its relationship with general intelligence

    NUTRICION HOSPITALARIA . 25(1): 60-66. Number of citations: 28

    [doi:10.3305/nh.2010.25.1.4482]

  • Gassió-Subirachs R, Vilaseca MA, Lambruschini N, Boix Lluch C, Fusté ME and Campistol-Plana J.

    Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin

    MOLECULAR GENETICS AND METABOLISM . 99(S): 75-78. Number of citations: 15

    [doi:10.1016/j.ymgme.2009.10.187]