지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 211 - 214 (4page)
이용수
초록· 키워드
오류제보하기
본 연구에서는 초고성능 액체크로마토그래피-탠덤질량분석기를(UPLC-MS/MS) 이용한 소변 포도당 사당류(Glc4) 측정법에 대해 평가하였다. 직선성 평가에서 5-500 μmol/L의 범위에서 직선성을 보였고, 일내정밀도와 일간정밀도 변이계수는 각각 6.52-14.6%, 11.5-13.2%를 보였다. 27명의 정상대조군 및 3명의 가성결핍 환자들의 Glc4 평균값은 각각 1.5, 12.1 mmol/mol 크레아티닌이었다. 폼페병 환자의 진단 당시 Glc4 측정값은 171.3 mmol/mol 크레아티닌이었으며 효소대체치료를 받은 후에 130.9 mmol/mol 크레아티닌으로 감소하였다. 따라서 UPLC MS/MS를 이용한 소변 Glc4 측정은 폼페병의 진단에 보조적인 생물학적 표지자로 활용될 수 있을 것이다.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
An Y / 2000 / Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease / Anal Biochem 287 : 136 ~ 143
An Y / 2005 / Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease / Mol Genet Metab 85 : 247 ~ 254
Chiang SC / 2012 / Algorithm for Pompe disease newborn screening : results from the Taiwan screening program / Mol Genet Meta 106 : 281 ~ 286
Cho A / 2007 / Clinical characteristics of childhood Pompe disease / J Korean Child Neurol Soc 15 : 83 ~ 89
Kumamoto S / 2009 / High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population /
An Y / 2005 / Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease / Mol Genet Metab 85 : 247 ~ 254
Chiang SC / 2012 / Algorithm for Pompe disease newborn screening : results from the Taiwan screening program / Mol Genet Meta 106 : 281 ~ 286
Cho A / 2007 / Clinical characteristics of childhood Pompe disease / J Korean Child Neurol Soc 15 : 83 ~ 89
Kumamoto S / 2009 / High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population /
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