N‐acetylglutamate synthetase deficiency, a second patient
- 20 October 1987
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 11 (2) , 191-193
- https://doi.org/10.1007/bf01799871
Abstract
A second patient withN-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.Keywords
This publication has 6 references indexed in Scilit:
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- N-Acetylglutamate Synthetase: Enzyme Assay in Human Livercclm, 1982
- N-Acetylglutamate Synthetase (NAGS) Deficiency : Diagnosis, Clinical Observations and TreatmentPublished by Springer Nature ,1982
- HealersNew England Journal of Medicine, 1981
- N-Acetylglutamate Synthetase Deficiency: A Disorder of Ammonia DetoxicationNew England Journal of Medicine, 1981