Literature DB >> 35073939

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

Yiming Lin1, Bangbang Lin2, Yanru Chen1, Zhenzhu Zheng1, Qingliu Fu1, Weihua Lin3, Weifeng Zhang4.   

Abstract

Entities:  

Year:  2022        PMID: 35073939      PMCID: PMC8785475          DOI: 10.1186/s13023-022-02173-4

Source DB:  PubMed          Journal:  Orphanet J Rare Dis        ISSN: 1750-1172            Impact factor:   4.123


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Correction to: Orphanet Journal of Rare Diseases (2021) 16:503 https://doi.org/10.1186/s13023-021-02126-3

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.GenderC0C0-F1GenotypeReferences
1Male4.616.29c.51C>G (p.F17L)c.1195C>T (p.R399W)This study
2Female3.283.17c.51C>G (p.F17L)c.51C>G (p.F17L)This study
3Female2.371.05c.338G>A (p.C113Y)c.760C>T (p.R254*)This study
4Male7.655.04c.51C>G (p.F17L)c.1400C>G (p.S467C)This study
5Male3.753.19c.760C>T (p.R254*)c.1400C>G (p.S467C)This study
6Male2.722.86c.844C>T (p.R282*)c.1400C>G (p.S467C)This study
7Female2.542.29c.695C>T (p.T232M)c.760C>T (p.R254*)This study
8Male5.296.58c.51C>G (p.F17L)c.1195C>T (p.R399W)This study
9Female5.025.53c.428C>T (p.P143L)c.428C>T (p.P143L)This study
10Female1.631.67c.760C>T (p.R254*)c.760C>T (p.R254*)This study
11Male2.312.76c.51C>G (p.F17L)c.1161T>G (p.Y387*)This study
12Female3.493.52c.51C>G (p.F17L)c.760C>T (p.R254*)Lin et al. 2020 [10]
13Male1.961.73c.51C>G (p.F17L)c.760C>T (p.R254*)Lin et al. 2021 [21]
14Female2.401.44c.760C>T (p.R254*)c.760C>T (p.R254*)Lin et al. 2021 [21]
15Male5.7810.67c.760C>T (p.R254*)c.797C>T (p.P266L)Lin et al. 2021 [21]
16Male5.958.64c.695C>T (p.T232M)c.1160A>G (p.Y387C)Lin et al. 2021 [21]
17Female7.276.66c.760C>T (p.R254*)c.797C>T (p.P266L)Lin et al. 2021 [21]
18Female5.585.59c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2021 [21]
19Female5.346.02c.797C>T (p.P266L)c.394-1G>ALin et al. 2021 [21]
20Female1.781.90c.695C>T (p.T232M)c.1139C>T (p.A380V)Lin et al. 2021 [21]
21Male4.344.45c.51C>G (p.F17L)c.51C>G (p.F17L)Lin et al. 2021 [21]
22Female4.754.16c.760C>T (p.R254*)c.845G>A (p.R282Q)Lin et al. 2021 [21]
23Female3.455.24c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2021 [21]
24Female6.825.02c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2021 [21]
25Male2.192.12c.822G>A (p.W274*)c.782_799del ((p.V261_P266del)Lin et al. 2021 [21]
26Male2.739.84c.51C>G (p.F17L)c.1144_1162del (p.V382Cfs*45)Lin et al. 2021 [21]
27Male3.0010.81c.51C>G (p.F17L)c.1400C>G (p.S467C)Lin et al. 2021 [21]
28Male6.465.10c.695C>T (p.T232M)c.1400C>G (p.S467C)Lin et al. 2021 [21]
29Male3.021.77c.760C>T (p.R254*)c.760C>T (p.R254*)Lin et al. 2021 [21]
30Female6.7710.05c.1400C>G (p.S467C)c.1400C>G (p.S467C)Lin et al. 2021 [21]
31Female2.361.75c.760C>T (p.R254*)c.760C>T (p.R254*)Lin et al. 2021 [21]
32Female3.122.88c.760C>T (p.R254*)c.51C>G (p.F17L)Lin et al. 2021 [21]
33Male3.643.80c.695C>T (p.T232M)c.1139C>T (p.A380V)Lin et al. 2021 [21]
34Female3.564.31c.760C>T (p.R254*)c.1139C>T (p.A380V)Lin et al. 2021 [21]
35Female6.273.43c.695C>T (p.T232M)c.1139C>T (p.A380V)Lin et al. 2021 [21]
36Female2.703.46c.760C>T (p.R254*)c.51C>G (p.F17L)Lin et al. 2021 [21]
37Male7.3514.27c.338G>A (p.C113Y)c.338G>A (p.C113Y)Lin et al. 2021 [21]
38Male8.252.51c.51C>G (p.F17L)c.338G>A (p.C113Y)Lin et al. 2019 [26]
39Male2.451.14c.760C>T (p.R254*)c.760C>T (p.R254*)Lin et al. 2019 [26]
40Male2.81.74c.760C>T (p.R254*)c.1161T>G (p.Y387*)Lin et al. 2019 [26]
41Female6.834.59c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2019 [26]
42Female6.2211.14c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2019 [26]
43Female6.164.02c.695C>T (p.T232M)c.1400C>G (p.S467C)Lin et al. 2019 [26]
44Male6.774.5c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2019 [26]
45Female4.916.66c.250T>A (p.Y84N)c.1400C>G (p.S467C)Lin et al. 2019 [26]
46Male3.244.05c.51C>G (p.F17L)c.1196G>A (p.R399Q)Lin et al. 2019 [26]
47Male4.965c.51C>G (p.F17L)c.1195C>T (p.R399W)Lin et al. 2019 [26]
48Female3.154.09c.760C>T (p.R254*)c.1400C>G (p.S467C)Lin et al. 2019 [26]
49Female4.121.29c.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

Biochemical and genetic characteristics of 49 patients with primary carnitine deficiency (PCD) 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 References 19 and 24 in the Table should be renumbered as 21 and 26 respectively. The correct Table 1 is included in this Correction. The original article has been revised accordingly.
  1 in total

1.  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
Journal:  Orphanet J Rare Dis       Date:  2021-12-04       Impact factor: 4.123

  1 in total

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