Article
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
Molecular genetics and metabolism - 1 Mar 2017
Welling Lindsey, Boelen Anita, Derks Terry G J, Schielen Peter C J I, de Vries Maaike, Williams Monique, Wijburg Frits A, Bosch Annet M
Abstract excerpt
INTRODUCTION: Newborn screening (NBS) for classical galactosemia (CG) was introduced in the Netherlands in 2007. Multiple screening methods have been used since, and currently a two-tier system is used, with residual enzyme activity of galactose-1-phosphate-uridyltransferase (GALT) and total galactose concentration in dried blood spots as the primary and secondary markers. As it is essential to monitor...
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