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Table 1 Patient characteristics

From: Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis

  Patient 1 Patient 2 Patient 3 Patient 4 Patient 5
Mutation c.806A > T c.1024 C > T c.182 C > A c.1265G > A c.1122C > T
Age (years) 49 45 43 31 29
Age at diagnosis 7 45 7 9 3
Height (m) 1.71 1.76 1.61 1.52 1.44
Weight (kg) 91 111 60 51 44
Age start ERT therapy 47 45 37 25 25
Currently on ERT therapy Yes Yes No Yes Yes
Duration of ERT therapy (years) 2 0.25 2 7 4
  1. N/A not applicable, ERT enzyme replacement therapy