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filingDate 2018-03-04-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f61b93310e665f043c1330939376bf05
publicationDate 2020-01-15-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-3593143-A1
titleOfInvention A screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios
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.
priorityDate 2017-03-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
type http://data.epo.org/linked-data/def/patent/Publication

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