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. 2020 Mar 6;15:68. doi: 10.1186/s13023-020-1347-3

Table 1.

patient and sample inclusion

Patient Sex Age (y) Gene Cobalamin resp Presentation Number of AMD per patient year Number of samples
Targeted analysis clinical laboratory Targeted metabolic assays Untargeted DI-HRMS in plasma Untargeted DI-HRMS in DBS
Total No AMD AMD Total No AMD AMD Total No AMD AMD Total No AMD AMD
P.01 F 19.6 MUT No Early 0.4 217 46 19 96 43 5 20 11 1 15 0 1
P.02 M 11.9 MUT No Late 0.9 43 28 0 69 59 0 20 19 0 11 10 0
P.03 F 11.0 MUT Yes Late 0.1 6 6 0 18 17 1 8 8 0 7 7 0
P.04 F 7.2 MUT No Late 0.5 1 1 0 2 2 0 1 1 0 0 0 0
P.05 M 7.5 MUT Yes Late 2.1 1 0 0 6 0 0 0 0 0 0 0 0
P.06 F 20.2 MMAA Yes Early 0.1 79 52 1 76 59 1 18 14 0 7 7 0
P.07a F 16.2 MMAA Yes Early 0.1 87 37 2 57 41 0 6 4 0 3 3 0
P.08a M b, 0.3 MMAA Yes Late 0 0 0 2 0 0 0 0 0 0 0 0
P.09 M 13.9 MMAA Yes Late 0.1 7 7 0 7 7 0 2 2 0 2 2 0
P.10 F 11.1 MMAA Yes Late 0.1 44 0 3 60 1 1 13 0 1 19 1 1
P.11 F 40.6 MMAB Yes Late 0.0 25 10 0 16 11 0 2 1 0 0 0 0
P.12 M 0.1 MUT No Early 0 0 0 7 0 0 0 0 0 0 0 0
P.13 M 37.3 MMA, unclass Yes Early 0.0 0 0 0 19 0 0 0 0 0 0 0 0
510 187 25 435 240 8 90 60 2 64 30 2
P.14 F 23.1 PA, unclass Early 0.6 369 18 38 106 3 14 18 0 2 7 0 1
P.15a F b, 2.9 PA, unclass Early 4.1 33 28 3 0 0 0 1 1 0 0 0 0
P.16a M 12.5 PA, unclass Family 2.4 92 6 19 21 3 3 9 1 2 13 0 2
P.17 F 17.6 PCCB Early 0.7 206 6 23 92 0 9 29 9 4 24 0 4
P.18 F 17.9 PCCA Early 0.7 251 64 31 128 50 12 37 11 4 30 0 4
P.19 F 8.6 PCCB Early 2.6 157 5 36 14 1 3 9 1 3 7 0 2
P.20 M b, 7.5 PCCB Early 0.3 0 0 0 19 0 0 0 0 0 0 0 0
P.21 F 24.6 PCCA Late 0.2 16 0 0 7 0 0 1 0 0 0 0 0
P.22a M b, 19.1 PCCB Late 0.3 80 1 2 72 2 0 12 0 0 0 0 0
P.23a M 19.1 PCCB Family 0.1 62 32 4 61 32 1 19 9 0 11 0 0
P.24 M 20.4 PCCA Late 0.2 11 0 1 7 0 0 4 0 0 3 0 0
1277 160 157 527 91 42 139 23 15 95 0 13

Subtotals are depicted in bold. aP.07 and P.08, P.15 and P.16, and P.22 and P.23 are pairs of siblings. Early onset: presentation < 28 days of life; Late onset: presentation > 28 days of life. Family: diagnosis at birth through an affected sibling. Abbreviations: AMD acute metabolic decompensation, F female, M male, unclass genetic defect is unclassified, (y) years; bpassed away