Tandem mass spectrometry for detecting and/or screening for...

Details Tandem mass spectrometry for detecting and/or screening for... Tandem mass spectrometry for detecting and/or screening for...

G - Physics

01

N

G01N 27/62 (2006.01) G01N 33/50 (2006.01)

Patent

CA 2678641

Embodiments of the present invention provide for detecting and/or screening for conditions associated with altered sterols by dehvatization of sterols to provide suitable sensitivity and selectivity of detection using tandem mass spectrometry with electrospray ionization. Such testing may be performed to detect and/or screen for conditions such as Smith-Lemli-Opitz syndrome, familial hypercholesterolemia, and cerebrotendinous xanthomatosis, or certain bile acid disorders.

La présente invention concerne la détection et/ou le criblage d'affections associées à une altération des stérols, par dérivatisation des stérols afin d'assurer une sensibilité et une sélectivité de détection convenables lorsque l'on a recours à une spectrométrie de masse en tandem avec ionisation par électropulvérisation. De telles analyses peuvent être mises en AEuvre en vue d'une détection et/ou d'un criblage d'affections telles que le syndrome de Smith-Lemli-Opitz, l'hypercholestérolémie familiale et la xanthomatose cérébro-tendineuse, ou encore de certains troubles associés aux acides biliaires.

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