| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8951416 | Brain and Development | 2018 | 4 Pages |
Abstract
Pseudodeficiency alleles are detected in approximately 4% of the Asian population; these demonstrate low activity of acid α-glucosidase (GAA), similar to levels found in Pompe disease. Clinicians should be careful in their interpretations of pseudodeficiency alleles that complicate diagnosis in cases of elevated creatine kinase.
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Authors
Yoshiki Oitani, Akihiko Ishiyama, Motomichi Kosuga, Kentaro Iwasawa, Ayako Ogata, Fumiko Tanaka, Eri Takeshita, Yuko Shimizu-Motohashi, Hirofumi Komaki, Ichizo Nishino, Torayuki Okuyama, Masayuki Sasaki,