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

Authors

Monique Williams
Alberto Burlina
Laura Rubert
Giulia Polo
George J G Ruijter
Myrthe van den Born
Véronique Rüfenacht
Nantaporn Haskins
Laura J C M van Zutven
Mendel Tuchman
Jasper J Saris
Johannes Häberle
Ljubica Caldovic, George Washington University

Document Type

Journal Article

Publication Date

10-18-2018

Journal

Sci Rep

Volume

8

Issue

1

DOI

[10.1038/s41598-018-33457-0

APA Citation

Williams, M., Burlina, A., Rubert, L., Polo, G., Ruijter, G., van den Born, M., Rüfenacht, V., Haskins, N., van Zutven, L., Tuchman, M., Saris, J., Häberle, J., & Caldovic, L. (2018). N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.. Sci Rep, 8 (1). http://dx.doi.org/[10.1038/s41598-018-33457-0

Peer Reviewed

1

Open Access

1