Tandem Mass Spectrometric Analysis of Dried Blood Spots for Screening of Mucopolysaccharidosis I in Newborns
Author:
Affiliation:
1. Departments of Chemistry,
2. Laboratory of Neurochemistry, Buenos Aires, Argentina
3. Pediatrics, and
4. Biochemistry, University of Washington, Seattle, WA;
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/51/5/898/32683418/clinchem0898.pdf
Reference9 articles.
1. Krivit W, Aubourg P, Shapiro E, Peters C. Bone marrow transplantation for globoid cell leukodystrophy, adrenoeukodystrophy, metachromatic leukodystrophy, and Hurler syndrome. Curr Opin Hematol1999;6:377-382.
2. Chamoles NA, Blanco MB, Gaggioli D, Casentini C. Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper. Clin Chem2001;47:2098-2102.
3. Chamoles NA, Blanco M, Gaggioli D. Fabry disease: enzymatic diagnosis in dried blood spots on filter paper. Clin Chim Acta2001;308:195-196.
4. Chamoles NA, Blanco M, Gaggioli D. Diagnosis of α-l-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. Clin Chem2001;47:780-781.
5. Chamoles NA, Blanco M, Gaggioli D, Casentini C. Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. Clin Chim Acta2002;318:133-137.
Cited by 56 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses;Orphanet Journal of Rare Diseases;2024-04-29
2. Newborn screening of mucopolysaccharidosis type I;Critical Reviews in Clinical Laboratory Sciences;2022-01-17
3. Mucopolysaccharidosis Type I in a Dog;Acta Scientiae Veterinariae;2021-01-18
4. Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report;International Journal of Neonatal Screening;2020-10-08
5. Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders;ACS Central Science;2018-12-06
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3