Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature
Abstract Background N-Acetylglutamate synthase (NAGS) deficiency is an extremely rare autosomal recessive metabolic disorder affecting the urea cycle, leading to episodes of hyperammonemia which can cause significant morbidity and mortality. Since its recognition in 1981, NAGS deficiency has been tr...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-10-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01560-z |