Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency

• Huvudskapare: Häberle J (Författare, medförfattare)
• Materialtyp: Bok
• Publicerad: Dove Medical Press, 2011-08-01T00:00:00Z.
• Ämnen: article
• Länkar: Connect to this object online.

Johannes HäberleKinderspital Zürich, Abteilung Stoffwechsel, Zürich, SwitzerlandAbstract: N-acetylglutamate synthase (NAGS) deficiency is a rare inborn error of metabolism affecting ammonia detoxification in the urea cycle. The product of NAGS is N-acetylglutamate which is...