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

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

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...

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Bibliographic Details
Main Authors: Arieh S. Cohen, Marta Baurek, Allan M. Lund, Morten Dunø, David M. Hougaard
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:International Journal of Neonatal Screening
Subjects:
galactosaemia
mass spectrometry
newborn screening
GALT
Online Access:https://www.mdpi.com/2409-515X/5/2/19

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