Research

Metabolomics and biochemical genetics

Search publications

Publications

  • González Jiménez D, Muñoz Codoceo R, Garriga García M, Molina Arias M, Alvarez Beltran M, García Romero R, Martínez Costa C, Meavilla-Olivas SM, Peña Quintana L, Gallego Gutierrez S, Marugan de Miguelsanz JM, Suarez Cortina L, Castejón Ponce EN, Leis Trabazo R, Martín Cruz F, Díaz Martín JJ and Bousoño García C.

    VITAMIN D AND CHRONIC LUNG COLONIZATION IN PEDIATRIC AND YOUNG ADULTS CYSTIC FIBROSIS PATIENTS

    NUTRICION HOSPITALARIA . 32(4): 1629-1635. Number of citations: 3

    [doi:10.3305/nh.2015.32.4.9503]

  • Jaffer F, Avbersek A, Vavassori R, Fons-Estupina C, Campistol-Plana J, Stagnaro M, De Grandis E, Veneselli E, Rosewich H, Gianotta M, Zucca C, Ragona F, Granata T, Nardocci N, Mikati M, Helseth AR, Boelman C, Minassian BA, Johns S, Garry SI, Scheffer IE, Gourfinkel-An I, Carrilho I, Aylett SE, Parton M, Hanna MG, Houlden H, Neville B, Kurian MA, Novy J, Sander JW, Lambiase PD, Behr ER, Schyns T, Arzimanoglou A, Cross JH, Kaski JP and Sisodiya SM.

    Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

    BRAIN . 138: 2859-2874. Number of citations: 29

    [doi:10.1093/brain/awv243]

  • Panagiotakaki E, De Grandis E, Stagnaro M, Heinzen EL, Fons-Estupina C, Sisodiya S, de Vries B, Goubau C, Weckhuysen S, Kemlink D, Scheffer I, Lesca G, Rabilloud M, Klich A, Ramírez-Camacho A, Ulate-Campos A, Campistol-Plana J, Giannotta M, Moutard ML, Doummar D, Hubsch-Bonneaud C, Jaffer F, Cross H, Gurrieri F, Tiziano D, Nevsimalova S, Nicole S, Neville B, van den Maagdenberg AM, Mikati M, Goldstein DB, Vavassori R, Arzimanoglou A, Italian IBAHC Consortium, French AHC Consortium and International AHC Consortium.

    Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients

    ORPHANET JOURNAL OF RARE DISEASES . 10: 123-123. Number of citations: 119

    [doi:10.1186/s13023-015-0335-5]

  • Campistol-Plana J.

    Neurological manifestations in metabolic diseases

    ARQUIVOS DE NEURO-PSIQUIATRIA . 73: 59-63.

  • Campistol-Plana J and Plecko B.

    Treatable newborn and infant seizures due to inborn errors of metabolism

    EPILEPTIC DISORDERS . 17(3): 229-242. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 20

    [doi:10.1586/14737175.2015.1055322]

  • 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. Number of citations: 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. Number of citations: 221

    [doi:10.1016/j.cell.2015.03.051]