日本質量分析学会 第66回質量分析総合討論会

プログラム

オーラルセッション

第3日 5月17日(木) 10:40~11:00 C会場(星雲2)

成育医療における質量分析法の貢献

(成育医療)
o真嶋隆一坂井英里大平麻里田中美砂奥山虎之

Mass spectrometry plays a key role in several clinical settings. Such examples can be readily found in chemical testing for diagnosis and neonatal screening. Usually, diseases in children link to genetic alteration more tightly than in adults. Thus, it is anticipated that such disorders may be identified through clinical phenotype, neonatal screening, NGS, or any combination of them. We will also discuss the potential efficacy of mass spectrometry in clinical diagnosis in children.