JOURNAL OF INHERITED METABOLIC DISEASE, vol.39, no.3, pp.331-340, 2016 (Peer-Reviewed Journal)
Article / Article
JOURNAL OF INHERITED METABOLIC DISEASE
Science Citation Index Expanded, Scopus
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD). This hypothesis-generating study explored clinical phenotypes, metabolic profiles, molecular genetics, and treatment approaches in a cohort of children and adults with ARG1 deficiency to add to our understanding of the underlying pathophysiology.