N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
Mol Genet Metab Rep. 2016 Aug 17;8:94-8. doi: 10.1016/j.ymgmr.2016.08.004. eCollection 2016 Sep.
Mol Genet Metab Rep. 2016.
PMID: 27570737
Free PMC article.