Pediatric patients with GSD1b recruited for the EMPAtia/Fixnet observational substudy
| . | Sex . | Age (y) . | SLC374A mutation NM_001164278.1 . | Protein mutation NP_001157750 . | G-CSF (μg/kg per day) . | Empagliflozin (mg/kg per day) . | Antibiotics requiring infections . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 . | 3 mo . | 12 mo . | 0 . | 3 mo . | 12 mo . | 1 y before . | 1 y after . | |||||
| P1 | M | 17 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 2 | 1 | 0 | 0.45 | 0.45 | 0.44 | 3 | 1 |
| P2 | M | 3 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 5.4 | 2.5 | 2.5 | 0.3 | 0.3 | 0.27 | 6 | 4 |
| P3 | M | 11 | c.[898C>T];[1042_1043del] | p.[(Arg300Cys)];[(p.Leu370Valfs)] | 2 | 0 | 0 | 0.47 | 0.47 | 0.46 | 7 | 6 |
| P4 | F | 7 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 1 | 0 | 0 | 0.44 | 0.44 | 0.42 | 0 | 1 |
| P5 | M | 14 | c.[1015G>T];[1042_1043del] | p.[(Gly361Cys)];[(p.Leu370Valfs)] | 6 | 0 | 0 | 0.43 | 0.42 | 0.4 | 1 | 1 |
| P6 | F | 19 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 4 | 0 | 0 | 0.3 | 0.3 | 0.27 | 4 | 0 |
| P7 | F | 8 | c.[1015G>T];[1042_1043del] | p.[(Gly361Cys)];[(p.Leu370Valfs)] | 2 | 1 | 0 | 0.3 | 0.3 | 0.27 | 2 | 0 |
| . | Sex . | Age (y) . | SLC374A mutation NM_001164278.1 . | Protein mutation NP_001157750 . | G-CSF (μg/kg per day) . | Empagliflozin (mg/kg per day) . | Antibiotics requiring infections . | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 0 . | 3 mo . | 12 mo . | 0 . | 3 mo . | 12 mo . | 1 y before . | 1 y after . | |||||
| P1 | M | 17 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 2 | 1 | 0 | 0.45 | 0.45 | 0.44 | 3 | 1 |
| P2 | M | 3 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 5.4 | 2.5 | 2.5 | 0.3 | 0.3 | 0.27 | 6 | 4 |
| P3 | M | 11 | c.[898C>T];[1042_1043del] | p.[(Arg300Cys)];[(p.Leu370Valfs)] | 2 | 0 | 0 | 0.47 | 0.47 | 0.46 | 7 | 6 |
| P4 | F | 7 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 1 | 0 | 0 | 0.44 | 0.44 | 0.42 | 0 | 1 |
| P5 | M | 14 | c.[1015G>T];[1042_1043del] | p.[(Gly361Cys)];[(p.Leu370Valfs)] | 6 | 0 | 0 | 0.43 | 0.42 | 0.4 | 1 | 1 |
| P6 | F | 19 | c.[1042_1043del];[1042_1043del] | p.[(Leu370Valfs)];[(p.Leu370Valfs)] | 4 | 0 | 0 | 0.3 | 0.3 | 0.27 | 4 | 0 |
| P7 | F | 8 | c.[1015G>T];[1042_1043del] | p.[(Gly361Cys)];[(p.Leu370Valfs)] | 2 | 1 | 0 | 0.3 | 0.3 | 0.27 | 2 | 0 |
F, female; M, male.