Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation

S. Pey; A. Chouksey

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Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation

机译：高速运动障碍：扩大糖基化先天性疾病的表型

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摘要

Congenital disorders of glycosylation (CDGs) constitute a rare group of inborn errors of metabolism with myriad clinical presentations due to multisystem involvement. They are caused by mutations in the genes encoding for enzymes involved in the biosynthesis or remodelling of the oligosaccharide moieties of glycoprotein and glycolipid glycans [1].

机译：先天性糖基化（CDGs）疾病（CDG）构成了由于多系统参与导致的临床临床介绍的稀有原本原本误差。它们是由编码参与糖蛋白和糖己平族聚糖的寡糖部分的生物合成或重塑的酶的基因中的突变引起的[1]。

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《European journal of neurology: the official journal of the European Federation of Neurological Societies》 |2019年第9期|共2页
作者
S. Pey; A. Chouksey;
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作者单位

Department of Neurology Govind Ballabh Pant Institute of Postgraduate Medical Education;

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正文语种 eng
中图分类神经病学;
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1. Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation [J] . S. Pey, A. Chouksey European journal of neurology: the official journal of the European Federation of Neurological Societies . 2019,第9期

机译：高速运动障碍：扩大糖基化先天性疾病的表型
2. Expanding the phenotype of phosphomannomutase-2 gene congenital disorder of glycosylation: Cervical dystonia [J] . Rossi Malco, Escobar Alex Medina, Ameghino Lucia, Journal of the Neurological Sciences: Official Bulletin of the World Federation of Neurology . 2017,第期

机译：扩大磷酸氨基甲基酶-2基因先天性疾病的表型：颈肌
3. SRD5A3‐CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features [J] . Wheeler Patricia G., Ng Bobby G., Sanford Laura, American journal of medical genetics, Part A . 2016,第12期

机译：SRD5A3-CDG：扩大先天性糖基化疾病的表型，重点是成人发病特征
4. A Clinical Applicable Smartwatch Application for Measuring Hyperkinetic Movement Disorder Severity [C] . M. Vochteloo, M.A.J. Tijssen, M. Beudel Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2019

机译：用于测量运动过度运动严重程度的临床适用Smartwatch应用程序
5. Modeling congenital disorders of glycosylation in Caenorhabditis elegans: Genetic influences and structural consequences of N-linked glycosylation [D] . Struwe, Weston Booth 2009

机译：秀丽隐杆线虫的先天性糖基化疾病建模：N-连锁糖基化的遗传影响和结构后果
6. SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features [O] . Patricia G. Wheeler, Bobby G. Ng, Laura Sanford, -1

机译：SRD5A3-CDG：扩大先天性糖基化疾病的表型重点是成人发病特征
7. Congenital Disorders of Glycosylation (CDG): A Rapidly Expanding Group of Neurometabolic Disorders [O] . Stephanie Grünewald, Gert Matthijs 2000

机译：先天性糖基化疾病（CDG）：一种快速扩增的神经素紊乱组

Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation

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