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Newborn bloodspot screening for lysosomal storage disorders.

作者信息

Zhou Hui, Fernhoff Paul, Vogt Robert F

机构信息

Newborn Screening Translation Research Initiative, National Foundation for the Centers for Disease Control and Prevention, Inc, Atlanta, GA 30341, USA.

出版信息

J Pediatr. 2011 Jul;159(1):7-13.e1. doi: 10.1016/j.jpeds.2011.02.026. Epub 2011 Apr 13.

DOI:10.1016/j.jpeds.2011.02.026

PMID:21492868

Abstract

摘要

相似文献

Newborn bloodspot screening for lysosomal storage disorders.

J Pediatr. 2011 Jul;159(1):7-13.e1. doi: 10.1016/j.jpeds.2011.02.026. Epub 2011 Apr 13.

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots.

Rapid Commun Mass Spectrom. 2010 Apr 15;24(7):986-94. doi: 10.1002/rcm.4496.

Newborn screening for lysosomal storage disorders.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16.

Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.

Top Curr Chem. 2014;336:177-96. doi: 10.1007/128_2012_354.

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.

Anal Chem. 2009 Aug 1;81(15):6113-21. doi: 10.1021/ac900504s.

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404. doi: 10.1007/s10545-006-0265-4.

Current strategies in the management of lysosomal storage diseases.

Semin Pediatr Neurol. 2008 Sep;15(3):119-26. doi: 10.1016/j.spen.2008.05.005.

Newborn screening for lysosomal storage disorders.

Acta Paediatr. 2008 Apr;97(457):33-7. doi: 10.1111/j.1651-2227.2008.00652.x.

[Mass spectrometry and neonatal screening].

Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):107-11. doi: 10.1684/abc.2014.1021.

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26.

引用本文的文献

A kaleidoscopic view of extracellular vesicles in lysosomal storage disorders.

Extracell Vesicles Circ Nucl Acids. 2022 Dec 30;3(4):393-421. doi: 10.20517/evcna.2022.41. eCollection 2022.

Diagnostic methods for Lysosomal Storage Disease.

Rep Biochem Mol Biol. 2019 Jan;7(2):119-128.

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

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

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

N Am J Med Sci (Boston). 2013;6(4):186-193. doi: 10.7156/najms.2013.0604186.

Newborn screening for hunter disease: a small-scale feasibility study.

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

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

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

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Nat Chem Biol. 2012 Jan 8;8(2):197-204. doi: 10.1038/nchembio.766.

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Clin Chem. 2011 Oct;57(10):1444-51. doi: 10.1373/clinchem.2011.163139. Epub 2011 Aug 22.

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Newborn bloodspot screening for lysosomal storage disorders.

作者信息

Zhou Hui, Fernhoff Paul, Vogt Robert F

机构信息

Newborn Screening Translation Research Initiative, National Foundation for the Centers for Disease Control and Prevention, Inc, Atlanta, GA 30341, USA.

出版信息

J Pediatr. 2011 Jul;159(1):7-13.e1. doi: 10.1016/j.jpeds.2011.02.026. Epub 2011 Apr 13.

DOI:10.1016/j.jpeds.2011.02.026

PMID:21492868

Abstract

摘要

相似文献

Newborn bloodspot screening for lysosomal storage disorders.

J Pediatr. 2011 Jul;159(1):7-13.e1. doi: 10.1016/j.jpeds.2011.02.026. Epub 2011 Apr 13.

Rapid Commun Mass Spectrom. 2010 Apr 15;24(7):986-94. doi: 10.1002/rcm.4496.

Newborn screening for lysosomal storage disorders.

Semin Perinatol. 2015 Apr;39(3):206-16. doi: 10.1053/j.semperi.2015.03.005. Epub 2015 Apr 16.

Application of mass spectrometry in newborn screening: about both small molecular diseases and lysosomal storage diseases.

Top Curr Chem. 2014;336:177-96. doi: 10.1007/128_2012_354.

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry.

Anal Chem. 2009 Aug 1;81(15):6113-21. doi: 10.1021/ac900504s.

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.

J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):397-404. doi: 10.1007/s10545-006-0265-4.

Current strategies in the management of lysosomal storage diseases.

Semin Pediatr Neurol. 2008 Sep;15(3):119-26. doi: 10.1016/j.spen.2008.05.005.

Newborn screening for lysosomal storage disorders.

Acta Paediatr. 2008 Apr;97(457):33-7. doi: 10.1111/j.1651-2227.2008.00652.x.

[Mass spectrometry and neonatal screening].

Ann Biol Clin (Paris). 2015 Jan-Feb;73(1):107-11. doi: 10.1684/abc.2014.1021.

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26.

引用本文的文献

A kaleidoscopic view of extracellular vesicles in lysosomal storage disorders.

Extracell Vesicles Circ Nucl Acids. 2022 Dec 30;3(4):393-421. doi: 10.20517/evcna.2022.41. eCollection 2022.

Diagnostic methods for Lysosomal Storage Disease.

Rep Biochem Mol Biol. 2019 Jan;7(2):119-128.

Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.

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

Enzymatic Screening and Diagnosis of Lysosomal Storage Diseases.

N Am J Med Sci (Boston). 2013;6(4):186-193. doi: 10.7156/najms.2013.0604186.

Newborn screening for hunter disease: a small-scale feasibility study.

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

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.

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

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.

Nat Chem Biol. 2012 Jan 8;8(2):197-204. doi: 10.1038/nchembio.766.

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Clin Chem. 2011 Oct;57(10):1444-51. doi: 10.1373/clinchem.2011.163139. Epub 2011 Aug 22.

Newborn bloodspot screening for lysosomal storage disorders.

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Newborn bloodspot screening for lysosomal storage disorders.

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