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

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/16828324
Author: 
Moser H
Author List: 
Hubbard WC
Moser AB
Tortorelli S
Liu A
Jones D
Moser H
Journal: 
Mol Genet Metab
PubMed ID: 
16828324
Pagination: 
185-7
Volume: 
89
Issue: 
1-2
Abstract: 
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.
Published Date: 
August, 2006

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