Clinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry

Table 1 Demographic and clinical characteristics of patients with mucopolysaccharidosis type VI

Parameter	n	Results (n = 53), n (%) or median (Q1; Q3)/ minimum and maximum
Sex, female/male, n (%)	27/26	27/53 (50.9)/27/53 (49.1)
Current age of the patient, years	53	19.0 (12.0; 30.0)/1.0-52.0
Age of first symptoms, years	38	2 (1.0; 4.0)/0.0-20.0
Age of molecular genetic diagnostics, years	40	11 (5/0; 19.0)/0.0-45
Age at diagnosis, years	44	7 (3.0; 14.0)/0.0-41
Time since first symptoms to genetic confirmation, years	34	7 (2.0; 15.0)/0.0-36
Ever received ERT, n (%)	48	48/51 (94.1)
Time since first symptoms of ERT, years	25	7 (4.0; 14.0)/0.0-36
Time since diagnosis to ERT, years	27	2 (0.0; 10.0)/0.0-21
Alive/died, n (%)	53	51 (96.2)/2 (3.8)
Age of death, years	1	25

ERT: Enzyme replacement therapy; Q1-Q3: Quartiles.