Patent · US Active

Screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios

US11650212B2 · kind B2 · utility

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11Claims
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Assignee

Inventor

Key dates

Filing dateMar 4, 2018
Grant dateMay 16, 2023
Priority date
Expiry dateMay 18, 2039

Classification

  • Technology area (CPC G)Physics
  • CPC primaryG01N2800/08
  • WIPO fieldMeasurement
  • WIPO sectorInstruments

Abstract

The invention relates to a method of diagnosing or screening for 27-hydroxylase (CYP27A1) deficiency in an animal comprising: determining in a biological sample the intensity signal by mass analysis of at least a bile alcohol glucuronide and a C24- or C27-bile acid or a conjugate thereof, comparing the intensity signals to a control sample or control value, and determining 27-hydroxylase (CYP27A1) deficiency based on said comparison.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.