Including Classical Galactosaemia in the Expanded Newborn Screening Panel Using Tandem Mass Spectrometry for Galactose-1-Phosphate

• Những tác giả chính: Arieh S. Cohen (Tác giả), Marta Baurek (Tác giả), Allan M. Lund (Tác giả), Morten Dunø (Tác giả), David M. Hougaard (Tác giả)
• Định dạng: Sách
• Được phát hành: MDPI AG, 2019-05-01T00:00:00Z.
• Những chủ đề: article
• Truy cập trực tuyến: Connect to this object online.

Galactosaemia has been included in various newborn screening programs since 1963. Several methods are used for screening; however, the predominant methods used today are based on the determination of either galactose-1-phosphate uridyltransferase (GALT) activity or the concentration of total galacto...