- 第3日 5月17日（木） 10:40～11:00 C会場（星雲2）
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.