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

Monique Williams, A Burlina, L Rubert, G Polo, George Ruijter, Myrthe van den Born, V Rufenacht, N Haskins, Laura van Zutven, M Tuchman, Jasper Saris, J Haberle, L Caldovic

Research output: Contribution to journalArticleAcademicpeer-review

9 Citations (Scopus)
13 Downloads (Pure)
Original languageUndefined/Unknown
Article number15436
JournalScientific Reports
Volume8
DOIs
Publication statusPublished - 2018

Research programs

  • EMC MM-01-54-01

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