Article ID Journal Published Year Pages File Type
8951416 Brain and Development 2018 4 Pages PDF
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.
Related Topics
Life Sciences Neuroscience Developmental Neuroscience
Authors
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