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Metabolòmica i genètica bioquímica

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Publicacions

  • Dominguez-Gonzalez C, Badosa C, Madruga-Garrido M, Martí I, Paradas C, Ortez-Gonzalez CI, Diaz-Manera J, Berardo A, Alonso-Pérez J, Trifunov S, Cuadras-Palleja D, Kalko-Witruk SG, Blázquez-Bermejo C, Cámara Y, Martí R, Mavillard F, Martin MA, Montoya C, Ruiz-Pesini E, Villarroya-Terrade J, Montero-Sanchez R, Villarroya-Gombau F, Artuch-Iriberri R, Hirano M, Nascimento-Osorio A and Jimenez-Mallebrera C.

    Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy

    SCIENTIFIC REPORTS . 10(1): 10111-10111. Nº de cites: 17

    [doi:10.1038/s41598-020-66940-8]

  • Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O and International Working Group on Neurotransmitter related Disorders (iNTD).

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 126-126. Nº de cites: 77

    [doi:10.1186/s13023-020-01379-8]

  • Leon KE, Schubert RD, Casas-Alba D, Hawes IA, Ramachandran PS, Ramesh A, Pak JE, Wu W, Cheung CK, Crawford ED, Khan LM, Launes-Montana C, Sample HA, Zorn KC, Cabrerizo M, Valero-Rello A, Langelier C, Munoz-Almagro C, DeRisi JL and Wilson MR.

    Genomic and serologic characterization of enterovirus A71 brainstem encephalitis

    NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION . 7(3): . Nº de cites: 19

    [doi:10.1212/NXI.0000000000000703]

  • Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol-Plana J, Artuch-Iriberri R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A and Pérez B.

    Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    HUMAN MUTATION . 41(7): 1329-1338. Nº de cites: 20

    [doi:10.1002/humu.24026]

  • Marta Sanz Palau, López-Sala A, Palacio-Navarro A, Turón M, Callejón L, Sans A, Poo P, Boix Lluch C and Colomé-Roura R.

    Prognostic factors and profile in traumatic brain injury in the paediatric age

    REVISTA DE NEUROLOGIA . 70(7): 235-245. Nº de cites: 2

    [doi:10.33588/rn.7007.2019393]

  • Pascual-Alonso A, Blasco-Perez L, Vidal-Falcó S, Gean Molins E, Rubio P, O'Callaghan-Gordo M, Martinez-Monseny T, Castells AA, Xiol-Viñas C, Català V, Brandi-Tarrau N, Pacheco-Fernández P, Ros C, Del Campo M, Guillén E, Ibañez S, Sánchez MJ, Lapunzina P, Nevado J, Santos F, Lloveras E, Ortigoza-Escobar JD, Tejada MI, Maortua H, Martínez F, Orellana C, Roselló M, Mesas MA, Obón M, Plaja A, Fernández-Ramos JA, Tizzano E, Marín R, Peña-Segura JL, Alcántara S and Armstrong-Moron J.

    Molecular characterization of Spanish patients with MECP2 duplication syndrome

    CLINICAL GENETICS . 97(4): 610-620. Nº de cites: 13

    [doi:10.1111/cge.13718]

  • Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol-Plana J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF, SOGRI Consortium and Lapunzina P.

    Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    EUROPEAN JOURNAL OF HUMAN GENETICS . 28(4): 469-479. Nº de cites: 19

    [doi:10.1038/s41431-019-0485-3]

  • Casas-Alba D, Clotet J, Inarejos E, Jou-Munoz C, Fons-Estupina C and Molera C.

    Broadening the spectrum of neonatal hemochromatosis

    JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE . 33(6): 1024-1026. Nº de cites: 5

    [doi:10.1080/14767058.2018.1506442]

  • Ruiz-Llobet A, Isola I, Gassiot S, Català-Temprano A, Díaz-Ricart M, Martinez-Monseny T, Serrano M and Berrueco R.

    Platelet Dysfunction in Noonan and 22q11.2 Deletion Syndromes in Childhood

    THROMBOSIS AND HAEMOSTASIS . 120(3): 457-465. Nº de cites: 3

    [doi:10.1055/s-0040-1701239]

  • Parisi C, Candela-Cantó SA, Serrano M, Català-Temprano A, Aparicio J and Hinojosa J.

    Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

    CHILDS NERVOUS SYSTEM . 36(11): 2851-2856. Nº de cites: 2

    [doi:10.1007/s00381-020-04558-x]