Research

Metabolomics and biochemical genetics

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Publications

  • Fons-Estupina C and Campistol-Plana J.

    Creatine Defects and Central Nervous System.

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 285-289. Number of citations: 19

    [doi:10.1016/j.spen.2016.11.003]

  • Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.

    Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Number of citations: 23

    [doi:10.1016/j.spen.2016.11.005]

  • Campistol-Plana J.

    Epilepsy in Inborn Errors of Metabolism With Therapeutic Options

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 321-331. Number of citations: 16

    [doi:10.1016/j.spen.2016.11.006]

  • 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: 23

    [doi:10.1016/j.spen.2016.11.007]

  • Ruiz-Hernández CJ, Castejón Ponce E, Bossacoma-Busquets F, Hernández DS, Meavilla-Olivas SM, Santacruz EL, Perez-Requena N, De Los Santos Pelegrini M and Villaronga M.

    Hypersensitivity reaction to components of parenteral nutrition in pediatrics

    Nutrition . 32(11-12): 1303-1305. Number of citations: 11

    [doi:10.1016/j.nut.2016.04.010]

  • Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.

    Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Number of citations: 52

    [doi:10.1016/j.mito.2016.06.007]

  • Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.

    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Number of citations: 28

    [doi:10.1111/dmcn.13114]

  • García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.

    Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

    PLoS One . 11(7): . Number of citations: 7

    [doi:10.1371/journal.pone.0158863]

  • Bravo-Alonso I, De Oyarzabal-Sanz AL, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.

    Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.

    Data in brief . 7: 755-759. Number of citations: 2

    [doi:10.1016/j.dib.2016.03.038]

  • Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

    METABOLIC BRAIN DISEASE . 31(3): 705-709. Number of citations: 7

    [doi:10.1007/s11011-015-9780-z]