Table 3.
Family ID | Patient ID | Diagnosis age (years) /gender |
|||
---|---|---|---|---|---|
F1 | P1 | 3/FM | NI | NI | CC, CCO, CF,CFF, CTS, GR, IH, JS, MC, UH, SK, SCC |
F1 | P2 | 2/M | 0.47% | NI | CC, CCO, CF, CFF, CTS, GR, IH, JS, MC, UH, SK, SCC |
F2 | P3 | 2/M | 0.03% | 46.3 | CC, CCO, CF, CFF, GR, IH, JS, MC, MY, UH, SK, SCC, |
F3 | P4 | 3/M | 0.02% | 40.0 | CC, CCO, GR, HM, IH, JS, MC, SK |
F4 | P5 | 3/FM | %0.03 | NI | CC, CCO, CFF, GR, HM, IH, MC, SK |
F5 | P6 | 3 /M | %0.02 | 59.6 | CC, CCO, CFF, GR, HD, IH, MC, UH, SK |
. ARSB activity in the patient's leukocytes (L) or skin fibroblasts (F) refer to the mean value of several controls analyzed in the same experiment.
. Urine glycosaminoglycans concentration expressed as mg GAG/mmol creatinine. Normal values: 8.01 ± 3.67 (0–1 years); 4.15 ± 2.07 (2–4 years); 3.02 ± 1.6 (4–10 years); 2.76 ± 0.99 (10–15 years); 1.48 ± 0.87 (15–20 years).
. CC, corneal clouding; CCO, cardiac complications; CF, cardiac failure; CTS, carpal tunnel syndrome; CFF, coarse facial features; GR, growth retardation; H, hepatomegaly; IH, impaired hearing; MC, macrocephaly; JS, joint stiffness; SK, skeletal abnormalities; UH, umbilical hernia; SCC, spinal cord compression; NI, no information.