Article ID Journal Published Year Pages File Type
10833827 Molecular Genetics and Metabolism 2011 6 Pages PDF
Abstract
► Modified screening method to distinguish the pseudodeficiency from Pompe patients. ► A combination of the three cut-off values resulted in a false-positive rate of 0.3%. ► Newborn screening for Pompe disease can be implemented using this method in Japan.
Related Topics
Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry
Authors
, , , , , , , ,