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Table 1 Baseline characteristics of the study population, diagnosis and gender

From: Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

 

CPS1D

OTCD

ASSD

Study population

Patients

12

23

27

63a

Gender

 male

4 (36.4 %)

21 (91.3 %)

12 (44.4 %)

37 (59.7 %)

 female

7 (63.6 %)

2 (8.7 %)

15 (55.6 %)

25 (40.3 %)

 no gender recorded

1

  

1

  1. ASSD Argininosuccinate synthetase deficiency, CPS1D Carbamoyl phosphate synthetase 1 deficiency, OTCD Ornithine transcarbamylase deficiency
  2. aone patient missing the documentation of the diagnosis