Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
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...
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Dove Medical Press,
2011-08-01T00:00:00Z.
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