Publications:

N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.

Jimd Reports

Selvanathan, Arthavan A; Demetriou, Kalliope K; Lynch, Matthew M; Lipke, Michelle M; Bursle, Carolyn C; Elliott, Aoife A; Inwood, Anita A; Foyn, Leanne L; McWhinney, Brett B; Coman, David D; McGill, Jim J

Publication Date: 2022-09

Variant appearance in text: NAGS: Arg208*

PubMed Link: 36101823

Variant Present in the following documents:

• Main text
• JMD2-63-420.pdf

View BVdb publication page

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: NAGS: 622C>T; Arg208Ter; rs762205848

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page