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

被引：19
作者：
Di Rocco, M
Hennet, T
Grubenmann, CE
Pagliardini, S
Allegri, AEM
Frank, CG
Aebi, M
Vignola, S
Jaeken, J
机构：
[1] Gaslini Inst, Pediat Unit 2, I-16147 Genoa, Italy
[2] Univ Zurich, Inst Physiol, CH-8006 Zurich, Switzerland
[3] Anna Hosp, Lab S, Turin, Italy
[4] Swiss Fed Inst Technol, Inst Microbiol, Zurich, Switzerland
[5] Katholieke Univ Leuven, Dept Pediat, Ctr Metab Dis, Louvain, Belgium
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 2005年 / 28卷 / 06期
关键词：
D O I：
10.1007/s10545-005-0137-3
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
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.
引用
收藏
页码：1162 / 1164
页数：3
相关论文
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