Research

Metabolomics and biochemical genetics

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Publications

  • Vázquez-Fonseca L, Schaefer J, Navas-Enamorado I, Santos-Ocaña C, Hernández-Camacho JD, Guerra I, Cascajo MV, Sánchez-Cuesta A, Horvath Z, Siendones E, Jou-Munoz C, Casado-Rio M, Gutiérrez P, Brea-Calvo G, López-Lluch G, Fernández-Ayala DJM, Cortés-Rodríguez AB, Rodríguez-Aguilera JC, Matté C, Ribes A, Prieto-Soler SY, Dominguez-Del-Toro E, Francesco AD, Aon MA, Bernier M, Salviati L, Artuch-Iriberri R, Cabo R, Jackson S and Navas P.

    ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

    Journal of Clinical Medicine . 8(9): . Number of citations: 25

    [doi:10.3390/jcm8091374]

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

    SCIENTIFIC REPORTS . 9(1): 11983-11983. Number of citations: 15

    [doi:10.1038/s41598-019-48385-w]

  • Pérez-Rius C, Castellanos A, Gaitán-Peñas H, Navarro A, Artuch-Iriberri R, Barrallo-Gimeno A and Estévez R.

    Role of zebrafish ClC-K/barttin channels in apical kidney chloride reabsorption

    JOURNAL OF PHYSIOLOGY-LONDON . 597(15): 3969-3983. Number of citations: 11

    [doi:10.1113/JP278069]

  • Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J and Borgel D.

    Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

    JOURNAL OF THROMBOSIS AND HAEMOSTASIS . 17(11): 1798-1807. Number of citations: 18

    [doi:10.1111/jth.14559]

  • Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD and Pérez-Dueñas B.

    Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 581-597. Number of citations: 73

    [doi:10.1002/jimd.12125]

  • Pope S, Artuch-Iriberri R, Heales S and Rahman S.

    Cerebral folate deficiency: Analytical tests and differential diagnosis

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 655-672. Number of citations: 47

    [doi:10.1002/jimd.12092]

  • Casas-Alba D, Valero-Rello A, Muchart-Lopez J, Armangue-Salvador T, Jordán-García I, Cabrerizo M, Molero M, Artuch-Iriberri R, Fortuny-Guasch C, Munoz-Almagro C and Launes-Montana C.

    Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis

    PEDIATRIC NEUROLOGY . 96: 70-73. Number of citations: 8

    [doi:10.1016/j.pediatrneurol.2019.01.024]

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Number of citations: 4

    [doi:10.1038/s41598-019-45674-2]

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

    Efficacy of a new parent and school-supported intervention after moderate and severe childhood traumatic brain injury

    REVISTA DE NEUROLOGIA . 68(11): 445-452. Number of citations: 1

    [doi:10.33588/rn.6811.2018346]

  • Tenorio J, Alarcón P, Arias P, Ramos F, Campistol-Plana J, Climent S, García-Miñaur S, Dapia I, Hernández A, Nevado J, Solís M, Ruiz Pérez VL, Consortium TSOGRI and Lapunzina P.

    MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

    CLINICAL GENETICS . 95(6): 726-731. Number of citations: 11

    [doi:10.1111/cge.13504]