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Overview of included studies for ATX-TBP:
Click here for summary of patients' characteristics
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
Country
Belgium
China
Denmark
Finland
France
Germany
Greece
India
Ireland
Italy
Japan
Mexico
South Korea
Spain
Taiwan
Thailand
United Kingdom
United States
Zimbabwe
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Musova, 2013
Mutational screen
6
n.a.
50%
38(+/-12)
: het
Nielsen, 2012
Case report/Case series
1
n.a.
100%
42
: het
Brockmann, 2012
Other/Mixed
5
n.a.
80%
38(+/-5)
: het
Tremolizzo, 2011
Case report/Case series
1
C
100%
23
: het
Yun, 2011
Mutational screen
8
A
38%
60(+/-8)
: het
Reetz, 2011
Other/Mixed
16
n.a.
63%
n.a.
: het
Hire, 2011
Mutational screen
1
n.a.
100%
19
: het
Xu, 2010
Mutational screen
1
A
100%
45
: het
Nolte, 2010
Mutational screen
4
C
50%
41(+/-6)
: het
Gamez, 2010
Case report/Case series
1
n.a.
100%
n.a.
: het
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