Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-009-9010-0
Reference12 articles.
1. Burin MG, Scholz AP, Gus Ret al R (2004) Investigation of lysosomal storage diseases in nonimmune hydrops fetalis. Prenat Diagn 24:653–657
2. Ghaedi K, Honsho M, Shimozawa N et al (2000) PEX3 is the causal gene responsible for peroxisome membrane assembly-defective Zellweger syndrome of complementation group G. Am J Hum Genet 67:976–981
3. Gilchrist KW, Gilbert EF, Goldfarb Set al (1976) Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of Zellweger: comparative pathology. Eur J Pediatr 121:99–118
4. Meulemans A, Seneca S, Smet J et al (2007) A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis. Eur J Paediatr Neurol 11:17–20
5. Muntau AC, Mayerhofer PU, Paton BC et al (2000) Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G. Am J Hum Genet 67:967–975
Cited by 18 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. The physiological functions of human peroxisomes;Physiological Reviews;2023-01-01
2. Super-Resolution Imaging of Peroxisomal Proteins Using STED Nanoscopy;Methods in Molecular Biology;2023
3. Characterization of pregnancy outcome of women with an offspring with inborn errors of metabolism: A population-based study;Frontiers in Genetics;2022-11-09
4. Characterization of Severity in Zellweger Spectrum Disorder by Clinical Findings: A Scoping Review, Meta-Analysis and Medical Chart Review;Cells;2022-06-10
5. Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review;Molecular Genetics and Metabolism Reports;2020-12
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