Early Detection and Diagnosis of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Missed by Newborn Screening Using Tandem Mass Spectrometry

• 主要な著者: Hiroko Shigetomi (著者), Toju Tanaka (著者), Masayoshi Nagao (著者), Hiroyuki Tsutsumi (著者)
• フォーマット: 図書
• 出版事項: MDPI AG, 2018-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate was positive among 600,000 infants born in Sa...