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
收藏
页码：185 / 187
页数：3
相关论文
共 6 条
  • [1] Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
    Bezman, L
    Moser, AB
    Raymond, GV
    Rinaldo, P
    Watkins, PA
    Smith, KD
    Kass, NE
    Moser, HW
    [J]. ANNALS OF NEUROLOGY, 2001, 49 (04) : 512 - 517
  • [2] The high price of false positives
    Howell, RR
    [J]. MOLECULAR GENETICS AND METABOLISM, 2006, 87 (03) : 180 - 183
  • [3] Moser AB, 1999, ANN NEUROL, V45, P100, DOI 10.1002/1531-8249(199901)45:1<100::AID-ART16>3.0.CO
  • [4] 2-U
  • [5] Adrenoleukodystrophy - New approaches to a neurodegenerative disease
    Moser, HW
    Raymond, GV
    Dubey, P
    [J]. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2005, 294 (24): : 3131 - 3134
  • [6] Peroxisome biogenesis disorders
    Weller, S
    Gould, SJ
    Valle, D
    [J]. ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2003, 4 : 165 - 211
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