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Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Anna Tylki-SzymańskaLinda De MeirleirMaja Di RoccoWaseem M FathallaNathalie GuffonChristina LampeAllan M LundRossella PariniFrits A WijburgJiri ZemanMaurizio Scarpa
Published in: Acta paediatrica (Oslo, Norway : 1992) (2019)
The expert panel developed and tested an algorithm that helps raise clinical suspicion of MPS I and would lead to a more prompt final diagnosis and allow earlier treatment.
Keyphrases
  • end stage renal disease
  • machine learning
  • deep learning
  • newly diagnosed
  • ejection fraction
  • chronic kidney disease
  • peritoneal dialysis
  • combination therapy