Research

Metabolomics and biochemical genetics

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Publications

  • Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla-Olivas SM, Bóveda MD, Fernández-Marmiesse A and Garcia-Cazorla A.

    Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 19(6): 652-659. Number of citations: 27

    [doi:10.1016/j.ejpn.2015.07.009]

  • Ormazabal-Herrero A, Casado-Rio M, Molero M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S and Artuch-Iriberri R.

    Can folic acid have a role in mitochondrial disorders?

    DRUG DISCOVERY TODAY . 20(11): 1349-1354. Number of citations: 30

    [doi:10.1016/j.drudis.2015.07.002]

  • Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Number of citations: 42

    [doi:10.1186/s13023-015-0358-y]

  • 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: 28

    [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: 110

    [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: 31

    [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: 13

    [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: 13

    [doi:10.1586/14737159.2015.1062727]