2B-O1-0910 PDF
臨床検査での質量分析の応用について（新生児マス・スクリーニング）
We participated in a pilot study, using electrospray tandem mass spectrometry (LC/MS/MS), of neonatal screening for inherited metabolic diseases. Our method had enough sensitivity for amino acids and acylcarnitines in a dry blood spot even without prior chemical derivatization. For clinical practice, accuracy management and quality control are essential to guarantee the data. We developed an easy measurement of steroid hormones to detect congenital adrenal hyperplasia patients due to 21-hydroxylase deficiency.