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Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.

Roberto GiuglianiNicole MuscholHillary A KeenanMark DantJoseph Muenzer
Published in: Archives of disease in childhood (2020)
Times to diagnosis and HSCT initiation for individuals with severe MPS I were consistent over time. For individuals with attenuated MPS I, the time to ERT initiation after diagnosis has improved substantially in the last 15 years, but median age at diagnosis has not improved. Efforts to improve early diagnosis in attenuated MPS I are needed to ensure that patients receive appropriate treatment at the optimal time.
Keyphrases
  • end stage renal disease
  • chronic kidney disease
  • newly diagnosed
  • ejection fraction
  • prognostic factors
  • combination therapy
  • drug induced
  • hematopoietic stem cell