Development of useful methods to improve the accuracy in newborn screening by tandem mass spectrometry

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In newborn screening using tandem mass spectrometry, in which more than 20 inherited metabolic diseases can be screened, screening markers were tested based on the patients'data, and new second-tier tests were developed to detect particular patients who need early diagnosis and quick therapy. In addition, a useful method to confirm the diagnosis of fatty acid oxidation disorders was developed in the present study. Thus, this screening for the designated diseases is ready to be performed as a nation-wide system in Japan.