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Mol Genet Metab. 2006 Sep-Oct;89(1-2):185-7. Epub 2006 Jul 7.

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

Author information

1
Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, 600 North Wolfe Street, Osler 527, Baltimore, MD 21287, USA. whubbard@jhmi.edu <whubbard@jhmi.edu>

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.

PMID:
16828324
DOI:
10.1016/j.ymgme.2006.05.001
[Indexed for MEDLINE]

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