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Metabolòmica i genètica bioquímica

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Publicacions

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Nº de cites: 11

    [doi:10.1038/s41598-016-0008-1]

  • Pérez-López J, Ceberio-Hualde L, García Morillo JS, Grau-Junyent JM, Hermida Ameijeiras Á, López-Rodríguez M, Morales-Conejo M, Nava Mateos JJ, Aldámiz Echevarri Azuara LJ, Campistol-Plana J, Couce ML, García-Silva MT, González Gutiérrez-Solana L and Del Toro M.

    Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso.

    MEDICINA CLINICA . 147(11): 506-506. Nº de cites: 6

    [doi:10.1016/j.medcli.2016.09.018]

  • Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R and Garcia-Cazorla A.

    Pyridoxal Phosphate Supplementation in Neuropediatric Disorders

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 351-358. Nº de cites: 4

    [doi:10.1016/j.spen.2016.11.009]

  • Batllori M, Molero M, Casado-Rio M, Sierra-March C, Artuch-Iriberri R and Ormazabal-Herrero A.

    Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 273-284. Nº de cites: 8

    [doi:10.1016/j.spen.2016.11.002]

  • Fons-Estupina C and Campistol-Plana J.

    Creatine Defects and Central Nervous System.

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 285-289. Nº de cites: 17

    [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. Nº de cites: 21

    [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. Nº de cites: 15

    [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. Nº de cites: 19

    [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. Nº de cites: 9

    [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 Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Nº de cites: 49

    [doi:10.1016/j.mito.2016.06.007]