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. Author manuscript; available in PMC: 2020 Jul 2.
Published in final edited form as: J Inherit Metab Dis. 2019 Jan;42(1):93–106. doi: 10.1002/jimd.12031

Table 4.

Time at diagnosis in the neonatal period (0 – 28 days), frequencies of pre-symptomatic diagnosis and onset of symptoms in UCD patients (including 83 patients with LTx)

Diagnosis in the neonatal period Pre-symptomatic diagnosis in the neonatal period
Age at diagnosis (days) EO
n (%column)
LO
n (%column)
ASx
n (%column)
n (%column) EO
n (%column)
LO
n (%column)
ASx
n (%column)
0 – 3, n=153 119 (43.4) 10 (38.5) 24 (45.3) 54 (54.0) 20 (95.2) 10 (38.5) 24 (45.3)
4 – 10, n=162 135 (49.3) 8 (30.8) 19 (35.8) 28 (28.0) 1 (4.8) 8 (30.8) 19 (35.8)
11 – 15, n=17 8 (2.9) 5 (19.2) 4 (7.5) 9 (9.0) 0 (0.0) 5 (19.2) 4 (7.5)
16 – 28, n=21 12 (4.4) 3 (11.5) 6 (11.3) 9 (9.0) 0 (0.0) 3 (11.5) 6 (11.3)
0 – 28, n=353 274 (100) 26 (100) 53 (100) 100 (100) 21 (100) 26 (100) 53 (100)

EO, early onset; LO, late onset; ASx, asymptomatic; LTx, liver transplantation