Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)
- Volume 5 Issue 1
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- Pages.18-22
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- 2005
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- 2287-4712(pISSN)
A Case of Clinical Improvement after Enzyme Replacement Therapy in Pompe Disease
효소 보충 치료로 호전을 보인 Pompe병 1례
- Jeon, You Hoon (Department of Pediatrics, College of Medicine, Soonchunhyang University) ;
- Eun, Baik Lin (Department of Pediatrics, College of Medicine, Korea University) ;
- Lee, Dong Hwan (Department of Pediatrics, College of Medicine, Soonchunhyang University)
- Published : 2005.07.02
Abstract
Pompe disease is a genetic disorder caused by a deficiency of acid
저자들은 Pompe 병으로 진단된 3세 남아에 recombinant human GAA 정주를 통한 효소 보충 치료를 시행하여 운동 능력과 심기능이 호전되며 간비대도 호전된 1례를 경험하였기에 보고하는 바이다.