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Table 1 Biochemical and genetic characteristics of 49 patients with primary carnitine deficiency (PCD)

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

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]
  1. The C0 levels within the cut-of value are given in bold
  2. C0: free carnitine detected at newborn screening, C0-F1: C0 retested at recall stage, cutoff value: 8.5–50 μmol/L