2012年5月
Acid phosphatase-positive globular inclusions is a good diagnostic marker for two patients with adult-onset Pompe disease lacking disease specific pathology
NEUROMUSCULAR DISORDERS
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- 巻
- 22
- 号
- 5
- 開始ページ
- 389
- 終了ページ
- 393
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1016/j.nmd.2011.11.003
- 出版者・発行元
- PERGAMON-ELSEVIER SCIENCE LTD
Diagnosis of adult-onset Pompe disease is sometimes challenging because of its clinical similarities to muscular dystrophy and the paucity of disease-specific vacuolated fibers in the skeletal muscle pathology. We describe two patients with adult-onset Pompe disease whose muscle pathology showed no typical vacuolated fibers but did show unique globular inclusions with acid phosphatase activity. The acid phosphatase-positive globular inclusions may be a useful diagnostic marker for adult-onset Pompe disease even when typical vacuolated fibers are absent. (C) 2011 Elsevier B.V. All rights reserved.
- リンク情報
- ID情報
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- DOI : 10.1016/j.nmd.2011.11.003
- ISSN : 0960-8966
- PubMed ID : 22196155
- Web of Science ID : WOS:000303973400003