Rhizomelic chondrodysplasia punctata morbidity and mortality, an update
Author:
Affiliation:
1. Nemours/Alfred I. duPont Hospital for Children Wilmington Delaware
2. Amsterdam University Medical Center Amsterdam The Netherlands
3. McGill University Montreal QC Canada
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61413
Reference17 articles.
1. The neurology of rhizomelic chondrodysplasia punctata
2. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
3. Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
4. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
5. Functions of plasmalogen lipids in health and disease
Cited by 11 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. A novel inducible animal model for studying chronic plasmalogen deficiency associated with Alzheimer’s disease;Brain Research;2024-11
2. Neonatal rhizomelic chondrodysplasia punctata type 2 caused by a novel homozygous variant in the GNPAT gene;Clinical Case Reports;2023-06
3. Quantitative analysis of ethanolamine plasmalogen species in red blood cells using liquid chromatography tandem mass spectrometry for diagnosing peroxisome biogenesis disorders;Clinica Chimica Acta;2023-03
4. Ether lipid transfer across the blood-brain and placental barriers does not improve by inactivation of the most abundant ABC transporters;Brain Research Bulletin;2022-10
5. Regulation of plasmalogen metabolism and traffic in mammals: The fog begins to lift;Frontiers in Cell and Developmental Biology;2022-08-31
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