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    Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

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    Date
    2002
    Author
    Shigematsu, Yosuke
    Hirano, Satoko
    Hata, Ikue
    Tanaka, Yukie
    Sudo, Masakatsu
    Sakura, Nobuo
    Tajima, Tsuyoshi
    Yamaguchi, Seiji
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    Abstract
    Electrospray tandem mass spectrometry was applied to detect a series of inherited metabolic disorders during a newborn-screening pilot study and a selective screening in Japan. In our mass screening of 102 200 newborns, five patients with propionic acidemia, two with methylmalonic acidemia, two with medium-chain acyl-CoA dehydrogenase deficiency, three with citrullinemia type II, and one with phenylketonuria were identified. In a selective screening of 164 patients with symptoms mainly related to hypoglycemia and/or hyperammonemia, 12 with fatty acid oxidation disorders and six with other disorders were found. The results indicated the importance of newborn screening using this technology in Japan.
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    http://repositorio.ub.edu.ar/handle/123456789/2863
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