Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10833827 | Molecular Genetics and Metabolism | 2011 | 6 Pages |
Abstract
⺠Modified screening method to distinguish the pseudodeficiency from Pompe patients. ⺠A combination of the three cut-off values resulted in a false-positive rate of 0.3%. ⺠Newborn screening for Pompe disease can be implemented using this method in Japan.
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Authors
Eri Oda, Toju Tanaka, Ohsuke Migita, Motomichi Kosuga, Masaru Fukushi, Toshika Okumiya, Makiko Osawa, Torayuki Okuyama,