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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Key dates
| Filing date | Mar 4, 2018 |
| Grant date | May 16, 2023 |
| Priority date | — |
| Expiry date | May 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.