تحميل...
N-CARBAMYLGLUTAMATE ENHANCEMENT OF UREAGENESIS LEADS TO DISCOVERY OF A NOVEL DELETERIOUS MUTATION IN A NEWLY DEFINED ENHANCER OF THE NAGS GENE AND TO EFFECTIVE THERAPY
NAGS catalyzes the conversion of glutamate and acetyl-CoA to N-acetylglutamate (NAG) the essential allosteric activator of carbamyl phosphate synthetase I, the first urea cycle enzyme in mammals. A 17-year-old female with recurrent hyperammonemia attacks, the cause of which remained undiagnosed for...
محفوظ في:
| المؤلفون الرئيسيون: | , , , , , |
|---|---|
| التنسيق: | Artigo |
| اللغة: | Inglês |
| منشور في: |
2011
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| الموضوعات: | |
| الوصول للمادة أونلاين: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3976964/ https://ncbi.nlm.nih.gov/pubmed/21681857 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21553 |
| الوسوم: |
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