N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

N-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or decreased production of N-acetylglutamate (NAG) due to either decreased NAGS gene expression or defective NAGS enzyme. NAG is essential for the activity of carb...

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Publicat a:Sci Rep
Autors principals: Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J. G., van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J. C. M., Tuchman, Mendel, Saris, Jasper J., Häberle, Johannes, Caldovic, Ljubica
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6194121/
https://ncbi.nlm.nih.gov/pubmed/30337552
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-33457-0
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