| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833514 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠We provide the first report of bulbar muscle involvement in glycogen storage disorder (GSD) IIIa. ⺠Three GSD IIIa patients had lingual weakness by instrumental assessment. ⺠One patient had correlative abnormal fatty infiltration of the tongue on MRI. ⺠Supportive abnormal glycogen infiltration on histopathology is seen in a canine model of GSD IIIa.
Keywords
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Jeffrey J. Horvath, Stephanie L. Austin, Harrison N. Jones, Elizabeth J. Drake, Laura E. Case, Brian J. Soher, Mustafa R. Bashir, Priya S. Kishnani,