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Metabolòmica i genètica bioquímica

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Publicacions

  • Marti-Sanchez L, Ortigoza-Escobar JD, Darling A, Villaronga M, Baide H, Molero M, Batllori-Tragant M, Vanegas-Grisales MI, Muchart-Lopez J, Aquino L, Artuch-Iriberri R, Macaya A, Kurian MA and Pérez-Dueñas B.

    Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

    ORPHANET JOURNAL OF RARE DISEASES . 13: 28-28. Nº de cites: 39

    [doi:10.1186/s13023-018-0758-x]

  • Sanz Marcos N, Malpique R, Sierra-March C, López-Bermejo A, Bassols J and Ibañez-Toda L.

    Body Composition and Circulating Polyunsaturated Fatty Acids at Age 6 Years: A Longitudinal Pilot Study

    HORMONE RESEARCH IN PAEDIATRICS . 90(6): 414-418.

    [doi:10.1159/000496988]

  • Serrano M.

    CIVIL SOCIETY AND RARE DISEASES

    ARBOR-CIENCIA PENSAMIENTO Y CULTURA . 194(789): 459. Nº de cites: 1

    [doi:10.3989/arbor.2018.789n3001]

  • Campistol-Plana J.

    Trastornos paroxísticos no epilépticos en el lactante.

    MEDICINA-BUENOS AIRES . 78 Suppl 2: 47-51.

  • Fons-Estupina C.

    Neonatal onset of epileptic syndromes. Causations and diagnostic process

    REVISTA DE NEUROLOGIA . 66: 61-69.

  • Mancuso M, McFarland R, Klopstock T, Hirano M and consortium on Trial Readiness in Mitochondrial Myopathies.

    International Workshop: Outcome measures and clinical trial readiness in primary mitochondrial myopathies in children and adults. Consensus recommendations. 16-18 November 2016, Rome, Italy

    NEUROMUSCULAR DISORDERS . 27(12): 1126-1137. Nº de cites: 50

    [doi:10.1016/j.nmd.2017.08.006]

  • Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.

    Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    SCIENTIFIC REPORTS . 7: 14675-14675. Nº de cites: 7

    [doi:10.1038/s41598-017-15063-8]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Casado-Rio M, Sierra-March C, Garcia-Cazorla A, Kurian M, Pope S, Heales SJ and Artuch-Iriberri R.

    Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

    NATURE PROTOCOLS . 12(11): 2359-2375. Nº de cites: 28

    [doi:10.1038/nprot.2017.103]

  • van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Feillet F, Gizewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH and van Spronsen FJ.

    The complete European guidelines on phenylketonuria: diagnosis and treatment.

    ORPHANET JOURNAL OF RARE DISEASES . 12(1): 162-162. Nº de cites: 524

    [doi:10.1186/s13023-017-0685-2]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 7(1): 12288-12288. Nº de cites: 19

    [doi:10.1038/s41598-017-11620-3]