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Publicaciones

  • Casado-Rio M, Sierra-March C, Batllori-Tragant M, Artuch-Iriberri R and Ormazabal-Herrero A.

    A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry

    Metabolomics . 14(6): 76-76. Nº de citas: 33

    [doi:10.1007/s11306-018-1374-4]

  • 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 citas: 27

    [doi:10.1038/nprot.2017.103]

  • 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 citas: 7

    [doi:10.1515/revac-2016-0019]

  • Batllori M, Molero M, Casado-Rio M, Sierra-March C, Artuch-Iriberri R and Ormazabal-Herrero A.

    Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 273-284. Nº de citas: 8

    [doi:10.1016/j.spen.2016.11.002]

  • Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.

    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Nº de citas: 28

    [doi:10.1111/dmcn.13114]

  • García-López R, de la Morena-Barrio ME, Alsina L, Pérez-Dueñas B, Jaeken J, Serrano M, Casado-Rio M and Hernández-Caselles T.

    Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

    PLoS One . 11(7): . Nº de citas: 7

    [doi:10.1371/journal.pone.0158863]

  • 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. Nº de citas: 50

    [doi:10.1093/brain/awv342]

  • Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

    ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Nº de citas: 19

    [doi:10.1186/s13023-015-0376-9]

  • Ormazabal-Herrero A, Casado-Rio M, Molero M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S and Artuch-Iriberri R.

    Can folic acid have a role in mitochondrial disorders?

    DRUG DISCOVERY TODAY . 20(11): 1349-1354. Nº de citas: 32

    [doi:10.1016/j.drudis.2015.07.002]

  • Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders

    Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de citas: 3

    [doi:10.1055/s-0035-1554782]