Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

M. Di Rocco; T. Hennet; C. E. Grubenmann; S. Pagliardini; A. E. M. Allegri; C. G. Frank; M. Aebi; S. Vignola; J. Jaeken

首页> 外文期刊>Journal of Inherited Metabolic Disease >Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

【24h】

Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

机译：先天性糖基化疾病（CDG）Ig：病人报告并文献复习

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

We report a new patient with CDG Ig and review the five other known patients. From the data on this small number of patients, it seems that the association of psychomotor retardation, male hypogenitalism and decreased serum IgG in a patient with a type 1 pattern of serum sialotransferrins might be a clue to the diagnosis of CDG Ig.

机译：我们报告了一名新的CDG Ig患者，并审查了另外五名已知患者。从这少数患者的数据来看，似乎在患有1型血清唾液转铁蛋白的患者中，精神运动发育迟缓，男性生殖器亢进和血清IgG降低的关联可能是诊断CDG Ig的线索。

著录项

来源
《Journal of Inherited Metabolic Disease》 |2005年第6期|1162-1164|共3页
作者
M. Di Rocco; T. Hennet; C. E. Grubenmann; S. Pagliardini; A. E. M. Allegri; C. G. Frank; M. Aebi; S. Vignola; J. Jaeken;
展开▼
作者单位

II Pediatric Unit Gaslini Institute;

Institute of Physiology University of Zurich;

Institute of Physiology University of Zurich;

Laboratory S Anna Hospital;

II Pediatric Unit Gaslini Institute;

Institute of Microbiology Swiss Federal Institute of Technology;

Institute of Microbiology Swiss Federal Institute of Technology;

II Pediatric Unit Gaslini Institute;

Centre for Metabolic Diseases Department of Pediatrics University of Leuven;

展开▼
收录信息
原文格式 PDF
正文语种 eng
中图分类
关键词

相似文献

外文文献
中文文献
专利

1. Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature. [J] . Rocco MD, Hennet T, Grubenmann CE, Journal of inherited metabolic disease . 2005,第6期

机译：先天性糖基化疾病（CDG）Ig：报告患者并复习文献。
2. Multifactorial hypercoagulable state associated with a thrombotic phenotype in phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG): Case report and brief review of the literature [J] . Lefrere Bertrand, Stepanian Alain, Charles Perrine, Thrombosis Research: An International Journal on Vascular Obstruction, Hemorrhage and Hemostasis . 2019,第期

机译：磷酸甘油橘酶-2先天性糖基化（PMM2-CDG）的血栓形成血栓表型（PMM2-CDG）的多功能型超可凝固状态（PMM2-CDG）：案例报告和文献简述
3. Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature [J] . Schiff Manuel, Roda Celine, Monin Marie-Lorraine, Journal of Medical Genetics . 2017,第12期

机译：96例PMM2-CDG（磷酸甘露胺酶2-先天性糖基化术语）和文学审查中的临床，实验室和分子发现和长期随访数据
4. Congenital Disorders of Glycosylation (CDG): an Overview [C] . Jaak Jaeken International Carbohydrate Symposium . 2013

机译：先天性糖基化（CDG）的先天性疾病：概述
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. Further Delineation of the Phenotype of Congenital Disorder of Glycosylation DPAGT1-CDG (CDG-Ij) Identified by Homozygosity Mapping [O] . Faiqa Imtiaz, Abeer Al-Mostafa, Zuhair N. Al-Hassnan 2012

机译：通过纯合作图鉴定的糖基化DPAGT1-CDG（CDG-Ij）先天性疾病表型的进一步描述。
7. Increased α3-fucosylation of α1-acid glycoprotein in patients with congenital disorder of glycosylation type IA (CDG-Ia)11A preliminary report was presented at 10th Eur. Carb. Symp., Galway, July, 1999, Abstr. No. OD23. [O] . Van Dijk Willem, Koeleman Carolien, Van het Hof Bert, 2001

机译：先天性IA型糖基化疾病（CDG-Ia）11患者中α1-酸糖蛋白的α3-岩藻糖基化水平升高11A初步报告于10th Eur发表。碳水化合物Symp。，Galway，1999年7月，摘要。编号OD23。

Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature

摘要

著录项

相似文献

相关主题

期刊订阅