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Combined Liquid Chromatography-tandem Mass Spectrometry As an Analytical Method for High Throughput Screening for X-linked Adrenoleukodystrophy and Other Peroxisomal Disorders: Preliminary Findings

Overview
Journal Mol Genet Metab
Specialty Endocrinology
Date 2006 Jul 11
PMID 16828324
Citations 43
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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.

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