Journal of Genetic Medicine
- 제4권1호
- /
- Pages.45-52
- /
- 2007
- /
- 1226-1769(pISSN)
- /
- 2383-8442(eISSN)
패브리병(Fabry) 진단을 위한 혈장 중 Globotriaosylceramide (Gb3)의 탠덤매스 분석법 개발과 임상 응용
Determination of plasma C16-C24 globotriaosylceramide (Gb3) isoforms by tandem mass spectrometry for diagnosis of Fabry disease
- 윤혜란 (덕성여자대학교 약학대학 생의약분석실) ;
- 조경희 (바이오코아 분석연구팀) ;
- 유한욱 (울산대학교 의과대학 서울아산병원 소아과 및 의학유전학교실) ;
- 최진호 (충남대학교 의과대학 소아과학교실) ;
- 이동환 (순천향대학교 의과대학 소아과학교실) ;
- ;
- Yoon, Hye-Ran (Department of Biomedical & Pharmaceutical Analysis, College of Pharmacy, Duksung Women's University) ;
- Cho, Kyung-Hee (Department of Analytical Research, BioCore Co., LTD.) ;
- Yoo, Han-Wook (Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine) ;
- Choi, Jin-Ho (Department of Pediatrics, College of Medicine, Chungnam National University) ;
- Lee, Dong-Hwan (Department of Pediatrics, Soonchonhyang University College of Medicine) ;
- Zhang, Kate (Therapeutic Protein Research, Genzyme Co.) ;
- Keutzer, Joan (Therapeutic Protein Research, Genzyme Co.)
- 발행 : 2007.03.01
초록
목 적 : 패브리병은 X-linked 지질 축적 질환으로
Purpose : A simple, rapid, and highly sensitive analytical method for Gb3 in plasma was developed without labor-ex tensive pre-treatment by electrospray ionization MS/ MS (ESI-MS/MS). Measurement of globotriaosy lceramide (Gb3, ceramide trihex oside) in plasma has clinical importance for monitoring after enzyme replacement therapy in Fabry disease patients. The disease is an X-linked lipid storage disorder that results from a deficiency of the enzyme