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Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.

Thomas J LanganKabir JalalAmy L BarczykowskiRandy L CarterMolly StapletonKenji OriiToshiyuki FukaoHironori KobayashiSeiji YamaguchiShunji Tomatsu
Published in: JIMD reports (2020)
Bivariate analysis of IDUA with HS in newborn DBS can accurately predict early MPSI symptoms, control false positive rates, and enhance presymptomatic treatment. This bivariate analysis-based approach, which was developed for Krabbe disease, can be extended to additional screened disorders.
Keyphrases
  • replacement therapy
  • combination therapy
  • physical activity
  • data analysis