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

• প্রধান লেখক: Häberle J (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: Dove Medical Press, 2011-08-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: 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...