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Case Reports
. 1988;11(2):191-3.
doi: 10.1007/BF01799871.

N-acetylglutamate synthetase deficiency, a second patient

C Bachmann  1 , M Brandis, E Weissenbarth-Riedel, R Burghard, J P Colombo
Affiliations
Case Reports

N-acetylglutamate synthetase deficiency, a second patient

C Bachmann et al. J Inherit Metab Dis. 1988.

Abstract

A second patient with N-acetylglutamate synthetase deficiency is described. The first symptoms were noted at 6 days of age. The course was lethal despite vigorous treatment. The diagnosis was established after death.

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References

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