SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-0647-3.pdf
Reference19 articles.
1. Assmann B, Hackler R, Peters V, et al. A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics. 2001;32:313–8.
2. Prietsch V, Peters V, Hackler R, et al. A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. J Inherit Metab Dis. 2002;25:126–30.
3. Al-Gazali L, Hertecant J, Algawi K, El Teraifi H, Dattani M, et al. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A. 2008;146A:813–9.
4. Kahrizi K, Najmabadi H, Kariminejad R, et al. An autosomal recessive syndrome. Eur J Hum Genet. 2009;1:125–8.
5. Morava E, Wosik HN, Sykut-Cegielska J, et al. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol. 2009;93:350–4.
Cited by 15 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. Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes;Genes;2024-07-16
2. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG;Journal of Pediatric Endocrinology and Metabolism;2023-04-13
3. Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography–High Resolution Mass Spectrometry;Analytical Chemistry;2023-01-30
4. A New, Rapid Method for the Quantification of Dolichyl Phosphates in Cell Cultures Using TMSD Methylation Combined with LC–MS Analysis;BIO-PROTOCOL;2023
5. Mirror Movements and Dystonia in SRD5A3 ‐Related Congenital Disorders of Glycosylation: Expanding the Phenotypic and Genotypic Spectrum;Movement Disorders Clinical Practice;2022-12-14
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