Niemann-Pick C disease: history, current research topics, biological and molecular diagnosis

被引：15
作者：
Vanier, Marie T. [1 ,2 ]
机构：
[1] Fac Med Lyon Est Laennec, INSERM, Unite 820, F-69372 Lyon 8, France
[2] Hop Est, Lab Gillet Merieux, Hosp Civils Lyon, F-69500 Bron, France
来源：
ARCHIVES DE PEDIATRIE | 2010年 / 17卷
关键词：
CHOLESTEROL ESTERIFICATION; NPC1;
D O I：
10.1016/S0929-693X(10)70010-5
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
The main historical steps leading to the concept of Niemann-Pick type C disease as an intracellular lipid and more specifically a cholesterol transport disorder are summarized: the current stage of knowledge and research hypotheses regarding the function of the NPC1 and NPC2 proteins and pathogeny of the cerebral dysfunction are briefly commented. The various approaches fig laboratory diagnosis of patients are finally discussed. (C) 2010 Elsevier Masson SAS. All rights reserved.
引用
收藏
页码：S41 / S44
页数：4
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