A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

• 主要な著者: Ralph Fingerhut (著者), Wulf Röschinger (著者), Markus Heck (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2016-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Newborn screening for MSUD is a special challenge since patients with MSUD can metabolically decompensate rapidly without adequate treatment within the first two weeks of life. However, the screening method does not detect the actual marker metabolite (alloisoleucine) specifically, but only as part...