使用数字微流控技术对干血斑中的亨特综合征进行快速单步检测。 - Suppr

Suppr

超能文献

Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics.

作者信息

Sista Ramakrishna, Eckhardt Allen E, Wang Tong, Séllos-Moura Márcia, Pamula Vamsee K

出版信息

Clin Chim Acta. 2011 Sep 18;412(19-20):1895-7. doi: 10.1016/j.cca.2011.06.015. Epub 2011 Jun 17.

DOI:10.1016/j.cca.2011.06.015

PMID:21708141

Abstract

摘要

相似文献

Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics.使用数字微流控技术对干血斑中的亨特综合征进行快速单步检测。

Clin Chim Acta. 2011 Sep 18;412(19-20):1895-7. doi: 10.1016/j.cca.2011.06.015. Epub 2011 Jun 17.

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).串联质谱法直接检测干血斑中的酶：在黏多糖贮积症II型（亨特氏病）新生儿筛查中的应用

Clin Chem. 2007 Jan;53(1):137-40. doi: 10.1373/clinchem.2006.077263. Epub 2006 Nov 2.

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).串联质谱法直接测定干血斑中的溶酶体酶：在新生儿中筛查黏多糖贮积症 II 型（亨特综合征）中的应用。

Anal Chem. 2011 Feb 1;83(3):1152-6. doi: 10.1021/ac102777s. Epub 2010 Dec 30.

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.利用数字微流控技术在干血斑上快速检测 Gaucher 和 Hurler 病。

Mol Genet Metab. 2013 Jun;109(2):218-20. doi: 10.1016/j.ymgme.2013.03.010. Epub 2013 Mar 24.

Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients.II型黏多糖贮积症（亨特综合征）中广泛蒙古斑的自然病史：对52例日本患者的调查

J Eur Acad Dermatol Venereol. 2007 Sep;21(8):1082-5. doi: 10.1111/j.1468-3083.2007.02203.x.

Pink rings lymphocyte: a new cytologic abnormality characteristic of mucopolysaccharidosis type II (Hunter disease).

Pediatrics. 1988 Aug;82(2):286-7.

A three-step molecular protocol employing DNA obtained from dried blood spots for neonatal screening for 45,X Turner syndrome.一种采用从干血斑中获取的DNA进行45,X特纳综合征新生儿筛查的三步分子检测方案。

Genet Mol Res. 2005 Dec 30;4(4):749-54.

Hunter syndrome and new onset idiopathic thrombocytopenic purpura in a young patient.

Ann Hematol. 2012 Feb;91(2):303-4. doi: 10.1007/s00277-011-1248-6. Epub 2011 May 10.

Public support for the use of newborn screening dried blood spots in health research.公众对在健康研究中使用新生儿筛查干血斑的支持。

Public Health Genomics. 2011;14(3):143-52. doi: 10.1159/000321756. Epub 2010 Dec 18.

Analysis of the GH content within archived dried blood spots of newborn screening cards from children diagnosed with growth hormone deficiency after the neonatal period.对新生儿期后被诊断为生长激素缺乏症儿童的新生儿筛查卡片存档干血斑中的生长激素含量进行分析。

Growth Horm IGF Res. 2011 Dec;21(6):314-7. doi: 10.1016/j.ghir.2011.07.009. Epub 2011 Sep 8.

引用本文的文献

A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.关于黏多糖贮积症II型新生儿筛查全球现状的系统文献综述

Int J Neonatal Screen. 2024 Oct 10;10(4):71. doi: 10.3390/ijns10040071.

Newborn Screening for Fabry Disease: Current Status of Knowledge.法布里病的新生儿筛查：知识现状

Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031.

A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome.一种点击翻转酶底物提高了亨特综合征诊断筛查的性能。

Chem Sci. 2020 Oct 23;11(47):12671-12676. doi: 10.1039/d0sc04696e.

Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.基于荧光的黏多糖贮积症新生儿筛查新方法

Diagnostics (Basel). 2020 May 11;10(5):294. doi: 10.3390/diagnostics10050294.

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders.用于溶酶体贮积症新生儿筛查中酶活性检测的点击底物的快速模块化组装

ACS Cent Sci. 2018 Dec 26;4(12):1688-1696. doi: 10.1021/acscentsci.8b00668. Epub 2018 Dec 6.

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.数字微流控技术日臻成熟：从高通量筛选到床边诊断检测，用于新生儿遗传疾病。

Expert Rev Mol Diagn. 2018 Aug;18(8):701-712. doi: 10.1080/14737159.2018.1495076. Epub 2018 Jul 13.

Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).II型粘多糖贮积症（MPS II；亨特综合征）的临床表现与治疗方法。

Expert Opin Orphan Drugs. 2017;5(4):295-307. doi: 10.1080/21678707.2017.1296761. Epub 2017 Mar 8.

Newborn Screening for Lysosomal Storage Disorders.溶酶体贮积症的新生儿筛查

J Pediatr Genet. 2017 Mar;6(1):51-60. doi: 10.1055/s-0036-1593843. Epub 2016 Dec 2.

Newborn screening for lysosomal storage diseases.溶酶体贮积症的新生儿筛查。

Clin Chem. 2015 Feb;61(2):335-46. doi: 10.1373/clinchem.2014.225771. Epub 2014 Dec 4.

Newborn screening for hunter disease: a small-scale feasibility study.新生儿亨特氏病筛查：一项小规模可行性研究。

JIMD Rep. 2014;14:23-7. doi: 10.1007/8904_2013_279. Epub 2013 Nov 23.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验