Research

Metabolomics and biochemical genetics

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Publications

  • Llorca-Cardeñosa A, Català-Mora J, Garcia-Cazorla A, Meavilla-Olivas SM and Castejón-Ponce E.

    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

    Archivos De La Sociedad Española De Oftalmología . 91(5): 236-239.

    [doi:10.1016/j.oftal.2016.01.006]

  • François C, Ripollés P, Bosch-Galceran L, García-Alix A, Muchart-Lopez J, Sierpowska J, Fons-Estupina C, Solé J, Rebollo M, Gaitán H and Rodriguez-Fornells A.

    Language learning and brain reorganization in a 3.5-year-old child with left perinatal stroke revealed using structural and functional connectivity

    Cortex . 77: 95-118. Number of citations: 21

    [doi:10.1016/j.cortex.2016.01.010]

  • De Oyarzabal-Sanz AL, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.

    Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1862(4): 592-600. Number of citations: 24

    [doi:10.1016/j.bbadis.2016.01.016]

  • Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero-Siles D, Montero-Sanchez R, Pineda M, O'Callaghan-Gordo M, Alcázar-Fabra M, Salviati L, Artuch-Iriberri R and Navas P.

    Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

    EUROPEAN JOURNAL OF HUMAN GENETICS . 24(3): 367-372. Number of citations: 14

    [doi:10.1038/ejhg.2015.112]

  • Catalán-García M, Garrabou G, Morén C, Guitart-Mampel M, Gonzalez-Casacuberta I, Hernando A, Gallego-Escuredo J, Yubero-Siles D, Villaroya F, Montero-Sanchez R, O-Callaghan AS, Cardellach F and Grau J.

    BACE-1, PS-1 and sAPPß Levels Are Increased in Plasma from Sporadic Inclusion Body Myositis Patients: Surrogate Biomarkers among Inflammatory Myopathies.

    MOLECULAR MEDICINE . 21(1): 817-823. Number of citations: 10

    [doi:10.2119/molmed.2015.00168]

  • Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    PLoS One . 11(2): . Number of citations: 119

    [doi:10.1371/journal.pone.0148709]

  • Ortigoza-Escobar JD, Molero M, Arias, A, Marti-Sanchez L, Rodriguez-Pombo, P, Artuch-Iriberri R and Pérez-Dueñas B.

    Treatment of genetic defects of thiamine transport and metabolism

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 16(7): 755-763. Number of citations: 27

    [doi:10.1080/14737175.2016.1187562]

  • Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.

    A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

    Mitochondrion . 26: 72-80. Number of citations: 19

    [doi:10.1016/j.mito.2015.12.004]

  • Ortigoza-Escobar JD, Molero M, Arias A, De Oyarzabal-Sanz AL, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado-Rio M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch-Iriberri R and Pérez-Dueñas B.

    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

    BRAIN . 139: 31-38. Number of citations: 48

    [doi:10.1093/brain/awv342]

  • García-Villoria J, Navarro-Sastre A, Fons-Estupina C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MT, González I, Hernández-Gonzalez A, Fernández C, Campistol-Plana J, Delpiccolo C, Cortés N, Messeguer A, Briones P and Ribes A.

    Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis (vol 42, pg 27, 2009)

    CLINICAL BIOCHEMISTRY . 49(1-2): 197-197.

    [doi:10.1016/j.clinbiochem.2015.11.012]