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. 2014 Nov 30;9:187. doi: 10.1186/s13023-014-0187-4

Figure 1.

Figure 1

The table under the figure shows the number of cases with neonatal, late or asymptomatic presentation in each disease. Most of the ASS deficient patients had neonatal onset. Among asymptomatic patients with OTC deficiency only one was a heterozygous mother included and treated because of biochemical abnormalities.