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Table 1 Patient demographics and baseline characteristics

From: Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series

Case Sex Consan-guinity Genetic analysis Age at diagnosis, years Age at initiation of ERT, years Duration of follow-upa for clinical outcomes, years Duration of follow-upa for event-based outcomes, years Heightb, cm Weightb, kg uGAGb, µg/mg creatinine uGAG age-related reference range, µg/mg creatinine (males + females) [38]
c.DNA Protein
1 M Yes NA NA 2.8 2.8 2.8 3.0 90 12.0 123.5 8–90
2 M Yes c.962T>C
homozygous
p.Leu321 Pro 3.8 3.8 2.4 9.0 87 14.5 112.8 8–90
3 F No NA NA 4.3 4.3 2.4 2.5 109 15.4 65.2 8–90
4 F No NA NA 4.7 4.7 2.2 4.0 106 17.0 132.8 8–90
5 F No NA NA 4.8 4.8 1.9 2.5 107 21.0 81.6 8–90
6 F Yes NA NA 4.8 4.8 2.3 4.0 90 13.0 154.3 8–90
7 M Yes c.962T>C
homozygous
p.Leu321 Pro 5.0 5.8 2.3 8.5 103 15.8 124.4 8–90
8 M Yes c.478 C>T
homozygous
p.Arg160 Ter 6.0 6.8 2.4 10.0 112 20.0 24.3 8–90
9 F Yes c.962T>C
homozygous
p.Leu321 Pro 7.2 7.8 2.4 9.0 99 15.3 307.7 8–90
10 F Yes c.962T>C
homozygous
p.Leu321 Pro 6.5 7.8 2.5 5.5 96 16.0 128.8 8–90
11 M Yes NA NA 7.0 8.5 3.2 3.5 116 25.0 201.1 8–90
12 M Yes NA NA 11.0 13.8 2.3 5.0 149 50.0 28.3 5–48
13 F Yes NA NA 10.0 13.8 2.4 3.5 145 40.0 63.2 5–48
14 M No NA NA 13.0 15.8 2.3 2.5 147 49.0 32.3 5–48
  1. aFollow-up since initiation of ERT
  2. bAt initiation of ERT
  3. NA: not available