Die Adulte Refsum-Erkrankung
Author:
Publisher
Springer Science and Business Media LLC
Subject
Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s00347-005-1239-x.pdf
Reference22 articles.
1. Casteels M, Croes K, Van Veldhoven PP, Mannaerts GP (1997) Peroxisomal localization of alpha-oxidation in human liver. J Inherit Metab Dis 20:665–673
2. Chambraud B, Radanyi C, Camonis JH, Rajkowski K, Schumacher M, Baulieu EE (1999) Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-CoA alpha-hydroxylase is a new FKBP-associated protein. Proc Natl Acad Sci USA 96:2104–2109
3. Claridge KG, Gibberd FB, Sidey MC (1992) Refsum disease: the presentation and ophthalmic aspects of Refsum disease in a series of 23 patients. Eye 6:371–375
4. Eldjarn L, Try K, Stokke O et al. (1966) Dietary effects on serum-phytanic-acid levels and on clinical manifestations in heredopathia atactica polyneuritiformis. Lancet 1:691–693
5. Jansen GA, Ofman R, Ferdinandusse S et al. (1997a) Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet 17:190–193
Cited by 7 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. Ausgeprägte Bandkeratopathie bei Refsum-Syndrom;Der Ophthalmologe;2021-06-09
2. Netzhautbeteiligung bei Muskeldystrophien;Klinische Monatsblätter für Augenheilkunde;2016-03-24
3. The Challenges of a Successful Pregnancy in a Patient with Adult Refsum’s Disease due to Phytanoyl-CoA Hydroxylase Deficiency;JIMD Reports;2016
4. Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder;Journal of Obesity;2011
5. Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa;Journal of the Neurological Sciences;2008-03
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