Mass Screening for Inborn Errors of Metabolism

研究成果: Review article査読

抄録

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.

本文言語English
ページ(範囲)441-449
ページ数9
ジャーナルRinsho byori. The Japanese journal of clinical pathology
63
4
出版ステータスPublished - 01-04-2015
外部発表はい

All Science Journal Classification (ASJC) codes

  • Medicine(all)

フィンガープリント 「Mass Screening for Inborn Errors of Metabolism」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

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