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Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia.

Carolina TorneroV Navarro-CompánA BuñoK E HeathM Díaz-AlmirónA BalsaJ A TenorioJ QuerP Aguado
Published in: Orphanet journal of rare diseases (2022)
In this study, we propose a biochemical predictive model based on the threshold levels of the main biochemical markers of HPP (ALP < 25 IU/L and PLP > 180 nmol/L) that when combined, seem to be very useful to identify individuals with ALPL variants.
Keyphrases
  • copy number
  • machine learning