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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2022

Open Access 01-12-2022 | Neonatal Screening | Correction

Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening

Authors: Yiming Lin, Bangbang Lin, Yanru Chen, Zhenzhu Zheng, Qingliu Fu, Weihua Lin, Weifeng Zhang

Published in: Orphanet Journal of Rare Diseases | Issue 1/2022

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Excerpt

Following the publication of the original article [1] the authors reported an error in Table 1 (page 3 of the PDF).
Table 1
Biochemical and genetic characteristics of 49 patients with primary carnitine deficiency (PCD)
Patient no.
Gender
C0
C0-F1
Genotype
References
1
Male
4.61
6.29
c.51C>G (p.F17L)
c.1195C>T (p.R399W)
This study
2
Female
3.28
3.17
c.51C>G (p.F17L)
c.51C>G (p.F17L)
This study
3
Female
2.37
1.05
c.338G>A (p.C113Y)
c.760C>T (p.R254*)
This study
4
Male
7.65
5.04
c.51C>G (p.F17L)
c.1400C>G (p.S467C)
This study
5
Male
3.75
3.19
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
This study
6
Male
2.72
2.86
c.844C>T (p.R282*)
c.1400C>G (p.S467C)
This study
7
Female
2.54
2.29
c.695C>T (p.T232M)
c.760C>T (p.R254*)
This study
8
Male
5.29
6.58
c.51C>G (p.F17L)
c.1195C>T (p.R399W)
This study
9
Female
5.02
5.53
c.428C>T (p.P143L)
c.428C>T (p.P143L)
This study
10
Female
1.63
1.67
c.760C>T (p.R254*)
c.760C>T (p.R254*)
This study
11
Male
2.31
2.76
c.51C>G (p.F17L)
c.1161T>G (p.Y387*)
This study
12
Female
3.49
3.52
c.51C>G (p.F17L)
c.760C>T (p.R254*)
Lin et al. 2020 [10]
13
Male
1.96
1.73
c.51C>G (p.F17L)
c.760C>T (p.R254*)
Lin et al. 2021 [21]
14
Female
2.40
1.44
c.760C>T (p.R254*)
c.760C>T (p.R254*)
Lin et al. 2021 [21]
15
Male
5.78
10.67
c.760C>T (p.R254*)
c.797C>T (p.P266L)
Lin et al. 2021 [21]
16
Male
5.95
8.64
c.695C>T (p.T232M)
c.1160A>G (p.Y387C)
Lin et al. 2021 [21]
17
Female
7.27
6.66
c.760C>T (p.R254*)
c.797C>T (p.P266L)
Lin et al. 2021 [21]
18
Female
5.58
5.59
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2021 [21]
19
Female
5.34
6.02
c.797C>T (p.P266L)
c.394-1G>A
Lin et al. 2021 [21]
20
Female
1.78
1.90
c.695C>T (p.T232M)
c.1139C>T (p.A380V)
Lin et al. 2021 [21]
21
Male
4.34
4.45
c.51C>G (p.F17L)
c.51C>G (p.F17L)
Lin et al. 2021 [21]
22
Female
4.75
4.16
c.760C>T (p.R254*)
c.845G>A (p.R282Q)
Lin et al. 2021 [21]
23
Female
3.45
5.24
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2021 [21]
24
Female
6.82
5.02
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2021 [21]
25
Male
2.19
2.12
c.822G>A (p.W274*)
c.782_799del ((p.V261_P266del)
Lin et al. 2021 [21]
26
Male
2.73
9.84
c.51C>G (p.F17L)
c.1144_1162del (p.V382Cfs*45)
Lin et al. 2021 [21]
27
Male
3.00
10.81
c.51C>G (p.F17L)
c.1400C>G (p.S467C)
Lin et al. 2021 [21]
28
Male
6.46
5.10
c.695C>T (p.T232M)
c.1400C>G (p.S467C)
Lin et al. 2021 [21]
29
Male
3.02
1.77
c.760C>T (p.R254*)
c.760C>T (p.R254*)
Lin et al. 2021 [21]
30
Female
6.77
10.05
c.1400C>G (p.S467C)
c.1400C>G (p.S467C)
Lin et al. 2021 [21]
31
Female
2.36
1.75
c.760C>T (p.R254*)
c.760C>T (p.R254*)
Lin et al. 2021 [21]
32
Female
3.12
2.88
c.760C>T (p.R254*)
c.51C>G (p.F17L)
Lin et al. 2021 [21]
33
Male
3.64
3.80
c.695C>T (p.T232M)
c.1139C>T (p.A380V)
Lin et al. 2021 [21]
34
Female
3.56
4.31
c.760C>T (p.R254*)
c.1139C>T (p.A380V)
Lin et al. 2021 [21]
35
Female
6.27
3.43
c.695C>T (p.T232M)
c.1139C>T (p.A380V)
Lin et al. 2021 [21]
36
Female
2.70
3.46
c.760C>T (p.R254*)
c.51C>G (p.F17L)
Lin et al. 2021 [21]
37
Male
7.35
14.27
c.338G>A (p.C113Y)
c.338G>A (p.C113Y)
Lin et al. 2021 [21]
38
Male
8.25
2.51
c.51C>G (p.F17L)
c.338G>A (p.C113Y)
Lin et al. 2019 [26]
39
Male
2.45
1.14
c.760C>T (p.R254*)
c.760C>T (p.R254*)
Lin et al. 2019 [26]
40
Male
2.8
1.74
c.760C>T (p.R254*)
c.1161T>G (p.Y387*)
Lin et al. 2019 [26]
41
Female
6.83
4.59
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2019 [26]
42
Female
6.22
11.14
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2019 [26]
43
Female
6.16
4.02
c.695C>T (p.T232M)
c.1400C>G (p.S467C)
Lin et al. 2019 [26]
44
Male
6.77
4.5
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2019 [26]
45
Female
4.91
6.66
c.250T>A (p.Y84N)
c.1400C>G (p.S467C)
Lin et al. 2019 [26]
46
Male
3.24
4.05
c.51C>G (p.F17L)
c.1196G>A (p.R399Q)
Lin et al. 2019 [26]
47
Male
4.96
5
c.51C>G (p.F17L)
c.1195C>T (p.R399W)
Lin et al. 2019 [26]
48
Female
3.15
4.09
c.760C>T (p.R254*)
c.1400C>G (p.S467C)
Lin et al. 2019 [26]
49
Female
4.12
1.29
c.760C>T (p.R254*)
c.760C>T (p.R254*)
Lin et al. 2019 [26]
The C0 levels within the cut-of value are given in bold
C0: free carnitine detected at newborn screening, C0-F1: C0 retested at recall stage, cutoff value: 8.5–50 μmol/L
…
Literature
1.
Metadata
Title
Correction to: Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening
Authors
Yiming Lin
Bangbang Lin
Yanru Chen
Zhenzhu Zheng
Qingliu Fu
Weihua Lin
Weifeng Zhang
Publication date
01-12-2022
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2022
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-022-02173-4

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