Prenatal Diagnosis of Inherited Metabolic Disease by Chorionic Villus Analysis: The Edinburgh Experience
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/BF03335393
Reference8 articles.
1. Besley, G. T. N., Broadhead, D. M. and Young, J. A. GM2-gangliosidosis variant with altered substrate specificity: evidence for α-locus genetic compound. J. Inher. Metab. Dis., 10 (1987) 403–404
2. Besley, G. T. N., Ferguson-Smith, M. E., Frew, C., Morris, A. and Gilmore, D. H. First trimester diagnosis of Gaucher disease in a fetus with trisomy 21. Prenat. Diagn. 8 (1988) 471–474
3. Chadefaux, B., Augereau, C., Rabier, D., Rocchicciolo, F., Boue, J., Oury, J. F. and Kamoun, P. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl-CoA carboxylase. Prenat. Diagn. 8 (1988) 161–164
4. Kleijer, W. J., van Diggelen, O. P., Janse, H. C., Galjaard, H., Dumez, Y. and Boue, J. First trimester diagnosis of Hunter syndrome on chorionic villi. Lancet 2 (1984) 472
5. Poenaru, L. First trimester prenatal diagnosis of metabolic diseases. A survey in countries in the European Community Prenat. Diagn. 7 (1987) 333–341
Cited by 8 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. Prenatal enzymatic diagnosis of lysosomal storage diseases using cultured amniotic cells, uncultured chorionic villus samples, and fetal blood cells: Hacettepe experience;Prenatal Diagnosis;2019-08-22
2. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders;Prenatal Diagnosis;2015-09-03
3. First prenatal diagnosis of the carnitine transporter defect;AM J MED GENET;1996
4. First-trimester biochemical and molecular diagnoses using chorionic villi: High accuracy in the U.S. collaborative study;Prenatal Diagnosis;1992-05
5. Prenatal diagnosis of enzyme defects--an update.;Archives of Disease in Childhood;1991-04-01
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