A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).
第一作者:
Trisha A,Duffey
第一单位:
Department of Chemistry, University of Washington, Seattle, WA 98195, USA.
作者:
医学主题词
成年人(Adult);缓冲剂(Buffers);法布里病(Fabry Disease);糖原贮积病Ⅱ型(Glycogen Storage Disease Type II);人类(Humans);氢离子浓度(Hydrogen-Ion Concentration);艾杜糖醛酸酶(Iduronidase);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);黏多糖累积病Ⅰ型(Mucopolysaccharidosis I);新生儿筛查(Neonatal Screening);光谱法, 质量, 电喷雾电离(Spectrometry, Mass, Electrospray Ionization);串联质谱法(Tandem Mass Spectrometry);α半乳糖苷酶(alpha-Galactosidase);α葡糖苷酶类(alpha-Glucosidases)
DOI
10.1373/clinchem.2010.152009
PMID
20940330
发布时间
2021-10-20
- 浏览21
Clinical chemistry
1854-61页
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