Congenital Disorders of Glycosylation, Dolichol and Glycosylphosphatidylinositol Metabolism
Author:
Publisher
Springer Berlin Heidelberg
Link
http://link.springer.com/content/pdf/10.1007/978-3-662-49771-5_41
Reference54 articles.
1. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P et al. (1980) Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res 14:179
2. Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change! Biochim Biophys Acta 1792:825–826
3. Jaeken J, van Eijk HG,van der Heul C et al. (1984) Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 144:245–247
4. Wopereis S, Grünewald S, Morava E et al. (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem 49:1839–1845
5. Barone R, Fiumara A, Jaeken J (2014) Congenital disorders of glycosylation with emphasis on cerebellar involvement. Semin Neurol 34:357–366
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. The evolving genetic landscape of congenital disorders of glycosylation;Biochimica et Biophysica Acta (BBA) - General Subjects;2021-11
2. Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians;Journal of Inherited Metabolic Disease;2019-04-24
3. The challenge of CDG diagnosis;Molecular Genetics and Metabolism;2019-01
4. Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature;Journal of Inherited Metabolic Disease;2017-07-19
5. What is new in CDG?;Journal of Inherited Metabolic Disease;2017-05-08
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