A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
Molecular Genetics and Metabolism(2016)
摘要
The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment.
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关键词
N-acetylglutamate,Hyperammonia,Mass spectrometry,NAGS-deficiency
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