Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders.
作者信息
De Jesús Víctor R, Zhou Hui, Vogt Robert F
出版信息
Clin Chem. 2013 Aug;59(8):1275-6. doi: 10.1373/clinchem.2013.209940. Epub 2013 May 30.
Abstract
摘要
相似文献
1
Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders.
Clin Chem. 2013 Aug;59(8):1275-6. doi: 10.1373/clinchem.2013.209940. Epub 2013 May 30.
2
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests.溶酶体贮积病筛查试验用干血斑质量控制材料的制备和储存。
Clin Biochem. 2011 Jun;44(8-9):704-10. doi: 10.1016/j.clinbiochem.2011.02.014. Epub 2011 Mar 4.
3
High-throughput assay of 9 lysosomal enzymes for newborn screening.高通量检测新生儿筛查中 9 种溶酶体酶。
Clin Chem. 2013 Mar;59(3):502-11. doi: 10.1373/clinchem.2012.189936. Epub 2013 Jan 11.
4
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.采用数字微流控平台对庞贝氏病、法布雷病、亨特综合征、戈谢病和黏多糖贮积症进行多重新生儿筛查。
Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.
5
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.一种用于黏多糖贮积症 I 型分析的柱切换高效液相色谱-串联质谱法，用于六种溶酶体贮积症的新生儿同时筛查的多重检测。
Biomed Chromatogr. 2014 Aug;28(8):1131-9. doi: 10.1002/bmc.3133. Epub 2014 Jan 22.
6
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism.一种用于干血斑中分析物的高度多重生化分析检测方法：在新生儿筛查以及溶酶体贮积症和其他先天性代谢缺陷疾病诊断中的应用。
Genet Med. 2020 Jul;22(7):1262-1268. doi: 10.1038/s41436-020-0790-9. Epub 2020 Apr 20.
7
Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.通过串联质谱法对干血斑中的酶进行直接多重检测用于溶酶体贮积症的新生儿筛查。
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404. doi: 10.1007/s10545-006-0265-4.
8
Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases.针对选定的遗传性溶酶体贮积病患者检测，对干血滤纸样本进行十二种不同的酶检测。
Clin Chim Acta. 2006 Oct;372(1-2):98-102. doi: 10.1016/j.cca.2006.03.029. Epub 2006 May 18.
9
Determination of the lysosomal hydrolase activity in blood collected on filter paper, an alternative to screen high risk populations.滤纸血斑法检测溶酶体水解酶活性：一种高危人群筛查的替代方法。
Gene. 2014 Feb 25;536(2):344-7. doi: 10.1016/j.gene.2013.11.101. Epub 2013 Dec 14.
10
Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.用于溶酶体贮积症新生儿筛查的质量控制干血斑材料的开发与评估
Clin Chem. 2009 Jan;55(1):158-64. doi: 10.1373/clinchem.2008.111864. Epub 2008 Nov 6.
引用本文的文献
1
Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.用于黏多糖贮积症和2型神经元蜡样脂褐质沉积症新生儿筛查的多重串联质谱酶活性测定法。
Clin Chem. 2017 Jun;63(6):1118-1126. doi: 10.1373/clinchem.2016.269167. Epub 2017 Apr 20.
2
Superparamagnetic-bead Based Method: An Effective DNA Extraction from Dried Blood Spots (DBS) for Diagnostic PCR.基于超顺磁珠的方法：一种从干血斑（DBS）中有效提取用于诊断性PCR的DNA的方法。
J Clin Diagn Res. 2014 Apr;8(4):FC01-4. doi: 10.7860/JCDR/2014/8171.4226. Epub 2014 Apr 15.
Zotero 插件