Combined liquid chromatography-Tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: Preliminary findings

被引：80

作者：

Hubbard, Walter C.

Moser, Ann B.

Tortorelli, Silvia

Liu, Anita

Jones, David

Moser, Hugo

机构：

[1] Johns Hopkins Univ, Sch Med, Div Clin Pharmacol, Baltimore, MD 21287 USA

[2] Kennedy Krieger Inst, Baltimore, MD 21205 USA

[3] Mayo Clin, Rochester, MN 55901 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2006年 / 89卷 / 1-2期

关键词：

Adrenoleukodystrophy; newborn screening; lysophosphatidyl choline; liquid chromatography-tandem mass spectrometry; electrospray ionization (ESI); multiple reaction monitoring (MRM); quantitation;

D O I：

10.1016/j.ymgme.2006.05.001

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (c) 2006 Elsevier Inc. All rights reserved.

引用

页码：185 / 187

页数：3

共 6 条

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