Juvenile neuronal ceroid-lipofuscinosis: characterization of the dyslipoproteinaemia and demonstration of membrane phospholipid and phospholipid-dependent signal transduction abnormalities in cultured skin fibroblasts.
Juvenile neuronal ceroid-lipofuscinosis: characterization of the dyslipoproteinaemia and demonstration of membrane phospholipid and phospholipid-dependent signal transduction abnormalities in cultured skin fibroblasts.
复制标题
幼年神经元蜡样脂褐质沉着症：异常脂蛋白血症的特征以及培养的皮肤成纤维细胞中膜磷脂和磷脂依赖性信号转导异常的证明。
DOI：
10.1007/bf00710272
复制
发表时间：
1993
影响因子：
4.2
通讯作者：
Korchak,HM
中科院分区：
文献类型：
--
作者：
Bennett,MJ;Poirier,SF;Chern,L;Gayton,AR;Hosking,GP;Le,NA;Majumdar,S;Korchak,HM
方法与结果：受试者。研究了6例JNCL患者。这些患者和我们以前诊断的其他患者的疾病特征是：(1)视网膜变性的初始表现年龄为8-10岁；(2) 20岁出头死亡；(3)直肠活检中“溶酶体”指纹体的电镜显示；(4)空泡淋巴细胞；(5)正常尿胆；(6)脑酒精升高
METHODS AND RESULTSSubjects." Six JNCL patients were studied. The disease in these patients and others previously diagnosed by us is characterized by:(1) initial age of presentation with retinal degeneration at 8-10 years;(2) death in the early twenties;(3) electronmicroscopic demonstration of'lysosomal'fingerprint bodies in a rectal biopsy;(4) vacuolated lymphocytes;(5) normal urinary dolichols;(6) elevated brain dolichol