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Metabolòmica i genètica bioquímica

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Publicacions

  • Emperador S, Vidal M, Hernández-Ainsa C, Ruiz-Ruiz C, Woods D, Morales-Becerra A, Arruga J, Artuch-Iriberri R, López-Gallardo E, Bayona-Bafaluy MP, Montoya C and Ruiz-Pesini E.

    The Decrease in Mitochondrial DNA Mutation Load Parallels Visual Recovery in a Leber Hereditary Optic Neuropathy Patient

    FRONTIERS IN NEUROSCIENCE . 12: 61-61. Nº de cites: 19

    [doi:10.3389/fnins.2018.00061]

  • Izquierdo-Serra M, Martinez-Monseny T, Lopez L, Carrillo-Garcia J, Edo A, Ortigoza-Escobar JD, Garcia O, Cancho-Candela R, Carrasco-Marina ML, Gutierrez-Solana LG, Cuadras-Palleja D, Muchart-Lopez J, Montero-Sanchez R, Artuch-Iriberri R, Perez-Cerda C, Perez B, Pérez-Dueñas B, Macaya A, Fernandez-Fernandez JM and Serrano M.

    Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 19(2): 619. Nº de cites: 40

    [doi:10.3390/ijms19020619]

  • 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: 42

    [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: 2

    [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.

  • Yubero-Siles D, Montero-Sanchez R, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency: an update

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 18(6): 491-498. Nº de cites: 26

    [doi:10.1080/14737159.2018.1478290]

  • 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: 56

    [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]