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Metabolòmica i genètica bioquímica

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Publicacions

  • Campistol-Plana J.

    Trastornos paroxísticos no epilépticos en el lactante.

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

  • 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: 20

    [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: 45

    [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: 6

    [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: 21

    [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: 390

    [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: 18

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

  • Casado-Rio M, Ferrer-Lopez, I, Ruiz-Sala, P, Perez-Cerda, C and Artuch-Iriberri R.

    Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

    REVIEWS IN ANALYTICAL CHEMISTRY . 36(3): . Nº de cites: 7

    [doi:10.1515/revac-2016-0019]

  • Ortigoza-Escobar JD, Alfadhel M, Molero M, Darin N, Spiegel R, de Coo IF, Gerards M, Taylor RW, Artuch-Iriberri R, Nashabat M, Rodríguez-Pombo P, Tabarki B, Pérez-Dueñas B and Marti-Sanchez L.

    Thiamine Deficiency in Childhood with Attention to Genetic Causes: Survival and Outcome Predictors

    ANNALS OF NEUROLOGY . 82(3): 317-330. Nº de cites: 45

    [doi:10.1002/ana.24998]

  • de Diego V, Martinez-Monseny T, Muchart-Lopez J, Cuadras-Palleja D, Montero-Sanchez R, Artuch-Iriberri R, Pérez-Cerdá C, Pérez B, Pérez-Dueñas B, Poretti A and Serrano M.

    Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(5): 709-713. Nº de cites: 14

    [doi:10.1007/s10545-017-0028-4]