Rinsho byori. The Japanese journal of clinical pathology · 2015
[Mass Screening for Inborn Errors of Metabolism].
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Ito Tetsuya
Аннотация
Neonatal mass screening is a project aiming at the prevention of disorders by discovering and treating diseases which damage health left untreated in all newborns. The bacterial inhibition assay (BIA) was developed in about .1961 and used as the Guthrie method for a long time, but it was replaced by tandem mass spectrometry due to the recent development of mass spectrometers, and its nationwide introduction in Japan was completed. With this introduction, 13 diseases were newly included in screening. Fatty acid and organic acid metabolic disorders and urea cycle disorders were included, and favorable results have been obtained.
Предметные рубрики MeSH
3-Hydroxyacyl CoA DehydrogenasesAcetyl-CoA C-AcyltransferaseAcyl-CoA DehydrogenaseAcyl-CoA Dehydrogenase, Long-ChainCarbon-Carbon Double Bond IsomerasesCongenital Bone Marrow Failure SyndromesEnoyl-CoA HydrataseFatty AcidsHumansInfant, NewbornJapanLipid Metabolism, Inborn ErrorsMass ScreeningMetabolism, Inborn ErrorsMitochondrial DiseasesMuscular DiseasesRacemases and EpimerasesTandem Mass SpectrometryUrea Cycle Disorders, Inborn