联用液相色谱-串联质谱法作为X连锁肾上腺脑白质营养不良及其他过氧化物酶体疾病高通量筛查的分析方法：初步研究结果
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings.
作者信息
Hubbard Walter C, Moser Ann B, Tortorelli Silvia, Liu Anita, Jones David, Moser Hugo
机构信息
Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA.
出版信息
Mol Genet Metab. 2006 Sep-Oct;89(1-2):185-7. doi: 10.1016/j.ymgme.2006.05.001. Epub 2006 Jul 7.
Utilizing combined liquid chromatography-tandem mass spectrometry (LC-MS/MS) as the analytical method, we have demonstrated a ten to sixtyfold excess of lysophosphatidyl choline containing hexacosanoic acid (26:0) in dried blood spots on a filter paper matrix from 25 male patients with X-linked adrenoleukodystrophy and nine patients with peroxisome biogenesis disorders compared to 19 controls. There was no overlap between normal subjects versus affected subjects.
利用液相色谱-串联质谱联用（LC-MS/MS）作为分析方法，我们已经证明，与19名对照相比，来自25名患有X连锁肾上腺脑白质营养不良的男性患者和9名患有过氧化物酶体生物发生障碍的患者的滤纸基质干血斑中，含有二十六烷酸（26:0）的溶血磷脂酰胆碱过量10至60倍。正常受试者和受影响受试者之间没有重叠。
Zotero 插件