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Volume 48, Issue 9
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype
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Supplementary
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Exomes
Short report
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the
ACSF3
gene in patients with a non-classic phenotype
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Online download statistics by month:
Online download statistics by month: July 2011 to March 2024
Abstract
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Pdf
Jul 2011
109
42
45
Aug 2011
295
114
118
Sep 2011
181
142
86
Oct 2011
90
69
58
Nov 2011
111
42
39
Dec 2011
78
34
25
Jan 2012
83
36
25
Feb 2012
86
34
19
Mar 2012
83
32
30
Apr 2012
41
31
23
May 2012
61
21
25
Jun 2012
51
41
23
Jul 2012
65
30
17
Aug 2012
56
31
23
Sep 2012
60
33
30
Oct 2012
74
30
26
Nov 2012
138
101
23
Dec 2012
90
62
19
Jan 2013
96
43
27
Feb 2013
56
18
14
Mar 2013
56
25
15
Apr 2013
46
24
21
May 2013
44
38
33
Jun 2013
35
18
23
Jul 2013
33
18
9
Aug 2013
28
10
10
Sep 2013
34
13
11
Oct 2013
23
27
12
Nov 2013
24
19
14
Dec 2013
35
17
26
Jan 2014
36
15
14
Feb 2014
33
22
17
Mar 2014
37
15
8
Apr 2014
32
17
9
May 2014
20
14
15
Jun 2014
16
31
12
Jul 2014
45
26
15
Aug 2014
18
15
9
Sep 2014
21
23
16
Oct 2014
17
19
15
Nov 2014
19
12
13
Dec 2014
34
15
16
Jan 2015
25
14
11
Feb 2015
21
17
9
Mar 2015
23
34
19
Apr 2015
27
22
19
May 2015
16
18
15
Jun 2015
20
15
13
Jul 2015
8
14
7
Aug 2015
20
9
11
Sep 2015
43
26
11
Oct 2015
18
8
4
Nov 2015
27
28
18
Dec 2015
25
27
13
Jan 2016
41
18
9
Feb 2016
29
13
15
Mar 2016
27
9
24
Apr 2016
43
40
34
May 2016
16
18
18
Jun 2016
29
20
13
Jul 2016
38
10
7
Aug 2016
27
13
5
Sep 2016
34
18
14
Oct 2016
28
13
13
Nov 2016
18
5
3
Dec 2016
15
14
8
Jan 2017
13
18
14
Feb 2017
7
8
8
Mar 2017
8
25
10
Apr 2017
3
38
12
May 2017
7
41
16
Jun 2017
17
36
8
Jul 2017
38
29
17
Aug 2017
63
46
15
Sep 2017
67
53
18
Oct 2017
87
41
15
Nov 2017
56
42
13
Dec 2017
26
24
14
Jan 2018
55
35
15
Feb 2018
55
40
12
Mar 2018
43
38
13
Apr 2018
49
34
16
May 2018
75
65
15
Jun 2018
46
31
13
Jul 2018
45
31
12
Aug 2018
40
24
6
Sep 2018
31
18
10
Oct 2018
40
34
17
Nov 2018
37
31
7
Dec 2018
41
40
14
Jan 2019
37
29
7
Feb 2019
51
33
28
Mar 2019
70
58
28
Apr 2019
44
42
21
May 2019
53
47
24
Jun 2019
41
35
22
Jul 2019
48
37
28
Aug 2019
44
33
12
Sep 2019
41
38
15
Oct 2019
78
63
17
Nov 2019
36
29
10
Dec 2019
81
69
14
Jan 2020
54
43
13
Feb 2020
45
36
5
Mar 2020
46
44
14
Apr 2020
38
27
17
May 2020
39
36
16
Jun 2020
56
40
10
Jul 2020
51
39
14
Aug 2020
36
30
18
Sep 2020
32
25
7
Oct 2020
32
22
16
Nov 2020
38
27
18
Dec 2020
27
19
7
Jan 2021
59
46
13
Feb 2021
32
32
25
Mar 2021
34
26
10
Apr 2021
30
22
8
May 2021
27
24
7
Jun 2021
39
39
13
Jul 2021
24
24
7
Aug 2021
27
27
11
Sep 2021
33
33
13
Oct 2021
29
21
24
Nov 2021
50
36
36
Dec 2021
36
30
12
Jan 2022
36
32
15
Feb 2022
39
32
7
Mar 2022
57
35
10
Apr 2022
39
30
12
May 2022
45
39
15
Jun 2022
34
32
10
Jul 2022
52
41
12
Aug 2022
85
67
10
Sep 2022
61
58
17
Oct 2022
72
64
22
Nov 2022
50
38
12
Dec 2022
41
31
6
Jan 2023
76
54
22
Feb 2023
51
48
10
Mar 2023
32
26
11
Apr 2023
33
28
15
May 2023
55
47
25
Jun 2023
31
28
12
Jul 2023
45
40
11
Aug 2023
38
38
9
Sep 2023
51
40
9
Oct 2023
57
45
12
Nov 2023
63
46
12
Dec 2023
34
30
11
Jan 2024
33
33
9
Feb 2024
58
48
10
Mar 2024
57
45
99
Total
7020
5020
2636
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