{
    "abstract": "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic encephalopathy caused by pathogenic variants in the ",
    "authors": [
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Hans-Otto",
            "initials": "HO",
            "lastname": "B\u00f6hm"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Mazyar",
            "initials": "M",
            "lastname": "Yazdani"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Elise M\u00f8rk",
            "initials": "EM",
            "lastname": "Sand\u00e5s"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Anja",
            "initials": "A",
            "lastname": "\u00d8steby Vassli"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Erle",
            "initials": "E",
            "lastname": "Kristensen"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Helge",
            "initials": "H",
            "lastname": "Rootwelt"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.\nDepartment of Mechanical, Electronic and Chemical Engineering, Faculty of Technology, Art and Design, Oslo Metropolitan University, Pilestredet 35, 0166 Oslo, Norway.",
            "firstname": "Hanne Bendiksen",
            "initials": "HB",
            "lastname": "Skogvold"
        },
        {
            "affiliation": "Department of Neuroscience, Faculty of Medicine, Norwegian University of Science and Technology, 7491 Trondheim, Norway.\nDepartment of Neurology, St. Olav's Hospital, University Hospital, 7006 Trondheim, Norway.",
            "firstname": "Eylert",
            "initials": "E",
            "lastname": "Brodtkorb"
        },
        {
            "affiliation": "Department of Medical Biochemistry, Oslo University Hospital, Rikshospitalet, Sognsvannsveien 20, 0372 Oslo, Norway.",
            "firstname": "Katja Benedikte Prest\u00f8",
            "initials": "KBP",
            "lastname": "Elgst\u00f8en"
        }
    ],
    "conclusions": null,
    "copyrights": null,
    "doi": "10.3390/ijms232416061\n10.1002/jimd.12060\n10.1016/j.seizure.2021.07.014\n10.1016/j.ymgme.2011.05.014\n10.1016/S0140-6736(94)90236-4\n10.1038/nm1366\n10.1002/jimd.12332\n10.1016/j.ymgme.2012.09.006\n10.1038/s41598-019-47882-2\n10.1002/jimd.12059\n10.1172/JCI148272\n10.1021/acs.analchem.1c02896\n10.3390/ijms20153755\n10.1159/000513545\n10.1586/14737159.8.5.617\n10.1038/s41598-020-74823-1\n10.1016/j.ab.2020.113739\n10.1039/B906712B\n10.4155/bio.11.155\n10.1038/s41587-020-0740-8\n10.1186/s13321-016-0116-8\n10.1021/jo00444a011\n10.1002/wcms.1261\n10.7164/antibiotics.33.1348\n10.7164/antibiotics.51.99\n10.1042/bj3270059\n10.1038/s41588-018-0135-7\n10.1016/j.cbi.2011.02.016\n10.1074/jbc.M109.077925\n10.1073/pnas.98.1.69\n10.1007/s00726-003-0036-6\n10.1002/ana.24027\n10.1093/hmg/ddaa202\n10.1111/j.1469-8749.2012.04347.x\n10.1212/WNL.0000000000201222\n10.1021/acs.jproteome.1c00326\n10.1038/s41592-019-0344-8\n10.1073/pnas.1509788112\n10.1007/s13361-016-1469-y",
    "journal": "International journal of molecular sciences",
    "keywords": [
        "6-hydroxy-(S)-2-aminocaproic acid (HACA)",
        "ALDH7A1",
        "C9H11NO4 isomer",
        "UHPLC-HRMS",
        "biomarker",
        "global metabolomics",
        "pyridoxine-dependent epilepsy"
    ],
    "methods": null,
    "publication_date": "2022-12-24",
    "pubmed_id": "36555701\n30671974\n34298455\n21704546\n7910233\n16491085\n33200442\n23022070\n31388081\n30663059\n34138754\n34756024\n31374809\n33271569\n18785810\n33077825\n32339489\n20373502\n20717559\n21827274\n33230292\n26839597\n6788737\n9544928\n9355735\n29808030\n21338592\n20207735\n11120890\n14752615\n24122892\n32969477\n22804844\n36008148\n34296888\n30886413\n26392543\n27624161",
    "results": null,
    "title": "Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.",
    "xml": "<Element 'PubmedArticle' at 0x788504f9d440>"
}