Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature

被引：0
作者：
Aileen Kenneson
Rani H. Singh
机构：
[1] Emory University,Department of Human Genetics
[2] Emory University,Department of Pediatrics
来源：
Orphanet Journal of Rare Diseases | / 15卷
关键词：
-Acetylglutamate synthase; NAGS; -Acetylglutamate synthase deficiency; Inherited metabolic disorder; Urea cycle; Hyperammonemia; Carbamylglutamate; Carbaglu;
D O I：
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