Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • Campistol-Plana J and Plecko B.

    Treatable newborn and infant seizures due to inborn errors of metabolism

    EPILEPTIC DISORDERS . 17(3): 229-242. Nº de citas: 32

    [doi:10.1684/epd.2015.0754]

  • Vallejo-Torres L, Castilla I, Couce ML, Pérez-Cerdá C, Martín-Hernández E, Pineda M, Campistol-Plana J, Arrospide A, Morris S and Serrano-Aguilar P.

    Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

    Pediatrics . 136(2): 424-432. Nº de citas: 16

    [doi:10.1542/peds.2014-3399]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de citas: 15

    [doi:10.1586/14737159.2015.1062727]

  • Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.

    Clinical, etiological and therapeutic aspects of cerebral folate deficiency

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Nº de citas: 21

    [doi:10.1586/14737175.2015.1055322]

  • de Diego, V, Serrano, M, Muchart, J, Felipe, A, Macaya, A, Velázquez, R, Póo, P, Fons, C, O'Callaghan, M, Garcia-Cazorla A, Boix, C, Robles B, Carratalá, F, Girós, M, Artuch-Iriberri R, Pérez Cerdá, C and Pérez Dueñas, B.

    Phosphomanomutase deficiency (PMM2-CDG): Assessment of cerebellar dysfunction through ICARS

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 19: 3-4.

    [doi:doi.org/10.1016/S1090-3798(15)30010-6]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Nº de citas: 14

    [doi:10.1016/j.mito.2015.03.001]

  • Reddy P, Ocampo A, Suzuki K, Luo J, Bacman SR, Williams SL, Sugawara A, Okamura D, Tsunekawa Y, Wu J, Lam D, Xiong X, Montserrat N, Esteban CR, Liu GH, Sancho-Martinez I, Manau D, Civico S, Cardellach F, O'Callaghan-Gordo M, Campistol-Plana J, Zhao H, Campistol JM, Moraes CT and Izpisua Belmonte JC.

    Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing

    Cell . 161(3): 459-469. Nº de citas: 229

    [doi:10.1016/j.cell.2015.03.051]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de citas: 20

    [doi:10.3389/fgene.2015.00102]

  • Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders

    Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de citas: 3

    [doi:10.1055/s-0035-1554782]

  • Natera-de Benito D, Fons-Estupina C, Ulate-Campos A, Martorell-Sampol L and Poo P.

    Clinical and genomic characterization of two patients with a duplication of 9q34: comparison and review of the literature

    CLINICAL DYSMORPHOLOGY . 24(1): 38-43. Nº de citas: 2

    [doi:10.1097/MCD.0000000000000064]