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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.

    Hubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H.

    Source

    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
    [PubMed - indexed for MEDLINE]

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