Case Reports
doi: 10.1007/BF01799871.
N-acetylglutamate synthetase deficiency, a second patient
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- PMID: 3139931
- DOI: 10.1007/BF01799871
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Case Reports
N-acetylglutamate synthetase deficiency, a second patient
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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