{
    "title": "Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.",
    "journal": "Human genetics",
    "date": "1999",
    "authors": "Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ",
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    "abstract": "",
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