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Publications

  • Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.

    Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

    Fluids and Barriers of the CNS . 16(1): 34-34. Number of citations: 16

    [doi:10.1186/s12987-019-0154-5]

  • 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: 36

    [doi:10.3390/jcm8091374]

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Number of citations: 8

    [doi:10.1111/dmcn.13746]

  • 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. Number of citations: 40

    [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. Number of citations: 31

    [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): . Number of citations: 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. Number of citations: 10

    [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. Number of citations: 32

    [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): . Number of citations: 10

    [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. Number of citations: 58

    [doi:10.1093/brain/awv342]