Infantile sialic acid storage disease (ISSD):: Report of the first case detected in Poland

被引：1
|
作者：
Tylki-Szymánska, A
Czartoryska, B
Lugowska, A
Verheijen, FW
Mancini, GMS
Rokicki, D
Taybert, J
Chmielínska, E
机构：
[1] Childrens Mem Hlth Inst, Dept Metab Dis, PL-04730 Warsaw, Poland
[2] Inst Psychiat & Neurol, Dept Genet, Warsaw, Poland
[3] Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
[4] Childrens Mem Hlth Inst, Dept Genet, Warsaw, Poland
来源：
PEDIATRICS INTERNATIONAL | 2003年 / 45卷 / 02期
关键词：
infantile sialic acid storage disease; sialic acid; lysosomal membrane defect;
D O I：
10.1046/j.1442-200X.2003.01693.x
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：199 / 200
页数：2
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