换一批
换一批Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.
第一作者：
Ramakrishna S,Sista
第一单位：
Advanced Liquid Logic, Inc., P.O. Box 14025, Research Triangle Park, NC 27709, USA.
作者：
关键词
4-MU4-MU-α-Gal4-MU-α-IDS4-MU-α-IDU4-MU-α-gluc4-MU-β-Gluc4-methyl umbelliferone4-methylumbelliferyl α-d-galactopyranoside4-methylumbelliferyl α-d-glucopyranoside4-methylumbelliferyl α-l-iduronate-2-sulfate4-methylumbelliferyl α-l-iduronide4-methylumbelliferyl β-d-glucopyranosideALLCDCCLSICenters for Disease Control and PreventionClinical and Laboratory Standards InstituteDBSDMSODigital microfluidicsDried blood spotGAAGBAGLAGalNacHigh throughputIDSIDULSDsLysosomal storage diseaseMultiplex enzymatic assayN-acetyl-d-galactosamineNBSNewborn screeningQCBPQCHQCLQCMRFUacid α-galactosidaseacid α-glucosidaseacid α-l-iduronate-2-sulfataseacid α-l-iduronidaseacid β-d-glucosidaseadvanced liquid logic, Inc.d-Sacd-saccharic acid 1,4 lactonedimethyl sulfoxidedried blood spotlysosomal storage diseasesmethyl-β-cyclodextrinnewborn screeningquality control base pool, 0 cord blood+100 leukoreduced adult blood adjusted to 50.5 hematocrit on filter paperquality control high, cord blood adjusted to 50.5 hematocrit on filter paperquality control low, 5 cord blood+95 leukoreduced adult blood adjusted to 50.5 hematocrit on filter paperquality control medium, 50 cord blood+50 leukoreduced adult blood adjusted to 50.5 hematocrit on filter paperrelative fluorescence unitsβ-MBCD
主题词
酶测定(Enzyme Assays);高通量筛选分析(High-Throughput Screening Assays);人类(Humans);婴儿, 新生(Infant, Newborn);溶酶体贮积病(Lysosomal Storage Diseases);微流体学(Microfluidics);新生儿筛查(Neonatal Screening);结果可重复性(Reproducibility of Results);敏感性与特异性(Sensitivity and Specificity);α葡糖苷酶类(alpha-Glucosidases)
DOI
10.1016/j.cca.2013.05.001
PMID
23660237
发布时间
2021-10-21
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