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Table 2 Frequency of hyperammonemic encephalopathy (initial presentation)

From: Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Disease name

Patients

(n)

HE total

(n)

HE + C

(n)

CPS1-D

8

7

6

mOTC-D

17

15

13

fOTC-D

5

1

0

ASS-D

10

3

3

ASL-D

7

4

3

ARG1-D

1

0

0

HHH syndrome

1

0

0

Citrin-D

1

0

0

Total

50

30

25

  1. HE hyperammonemic encephalopathy, HE + C HE with coma. In a single patient with CPS1-D the manifestation of HE remained unknown
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172