Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?
Author:
Publisher
MDPI AG
Subject
Obstetrics and Gynaecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology, and Child Health
Link
http://www.mdpi.com/2409-515X/4/3/21/pdf
Reference25 articles.
1. Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism
2. Pilot neonatal screening program for lysosomal storage disorders, using lamp-1;Ranieri;Southeast Asian J. Trop. Med. Public Health,1999
3. Diagnosis of alpha-l-iduronidase deficiency in dried blood spots on filter paper: The possibility of newborn diagnosis;Chamoles;Clin. Chem.,2001
4. Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening
5. Digital Microfluidics: A Future Technology in the Newborn Screening Laboratory?
Cited by 5 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. Addition of MPS-II to the Recommended Uniform Screening Panel in the United States;International Journal of Neonatal Screening;2022-10-11
2. The future of newborn screening for lysosomal disorders;Neuroscience Letters;2021-08
3. Review and Proposal of Alternative Technologies for Comprehensive and Reliable Newborn Screening Using Paper Borne Urine Samples for Lysosomal Storage Disorders: Glycosphingolipid Disorders;Journal of Inborn Errors of Metabolism and Screening;2021
4. Is it Pompe Disease? Australian diagnostic considerations;Neuromuscular Disorders;2020-05
5. Is Newborn Screening the Ultimate Strategy to Reduce Diagnostic Delays in Pompe Disease? The Parent and Patient Perspective;International Journal of Neonatal Screening;2020-01-09
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