Table 1 |
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|
Clinical characteristics of Tunisian MPS I patients |
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|
FAMILLES |
I |
II |
III |
IV |
V |
VI |
VII |
VIII |
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|
|
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|
Patients |
1 |
2 |
3 |
4 |
5 |
6 |
7 |
8 |
9 |
10 |
11 |
12 |
|
|
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|
Age |
5 years 6 months (died) |
1 year 3 month (died) |
9 months |
9 years (died) |
10 years |
25 years(died) |
13 years |
10 years |
5 years (died) |
8 years (died) |
6 years |
5 years |
|
|
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|
Age of onset |
2 months |
1 month half |
9 months |
7 months |
8 months |
9 months |
5 years |
1 year 6 months |
1 year |
5 years |
1 year |
9 months |
|
|
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|
Sex |
Male |
Male |
Female |
Male |
Male |
Male |
Female |
Male |
Female |
Female |
Female |
Female |
|
|
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|
Height (cm) |
103 (-1,5 DS) |
71 (+1DS) |
51(+1DS) |
107 (-3 DS) |
118 (-3 DS) |
120 (-3 DS) |
110 (-3 DS) |
115 (-3 DS) |
102 (-3DS) |
107 (-3DS) |
120(3DS) |
120(3DS) |
|
Weight (Kg) |
13 (-2 DS) |
12 (+2 DS) |
7(+1DS) |
19 (-1 DS) |
18 (- 3 DS) |
20 (-3DS) |
15 (- 1 DS) |
19 (-1 DS) |
18 (-1 DS) |
19 (-1DS) |
20(-3DS) |
18(-1DS) |
|
|
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|
IDUA activity (μKat/kg) |
0,00 |
0,00 |
0,00 |
0,018 |
0,018 |
0,030 |
nd |
0,050 |
0,020 |
nd |
0.09 |
0.00 |
|
|
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|
Nd: non determined |
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|
Chkioua et al. Diagnostic Pathology 2011 6:39 doi:10.1186/1746-1596-6-39 |
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