肾上腺脑白质营养不良：培养的皮肤成纤维细胞中C26脂肪酸升高及其与一个家族三代疾病表现的相关性
Adrenoleukodystrophy: elevated C26 fatty acid in cultured skin fibroblasts and correlation with disease expression in three generations of a kindred.
作者信息
O'Neill B P, Moser H W, Marmion L C
出版信息
Neurology. 1982 May;32(5):540-2. doi: 10.1212/wnl.32.5.540.
PMID:6280106
Abstract
Varying combination of central and peripheral nervous system disease and Addison disease were previously described in 14 members of a family. The diagnosis of adrenoleukodystrophy (ALD) was documented in affected individuals by increased content of C26:0 C26/C22 fatty acid ratios were not proportional to the neurologic syndrome, severity of disease, or duration.
摘要
先前在一个家族的14名成员中描述了中枢神经系统疾病和周围神经系统疾病与艾迪生病的不同组合。通过C26:0 C26/C22脂肪酸比值升高，确诊受影响个体患有肾上腺脑白质营养不良（ALD），但该比值与神经综合征、疾病严重程度或病程不成比例。
Zotero 插件