Precision Medicine in Rare Disease: Mechanisms of Disparate Effects of n-Carbamyl-l-Glutamate on Mutant CPS1 Enzymes.
Document Type
Journal Article
Study Type
casereport
Publication Date
3-1-2017
Journal
Molecular Genetics and Metabolism
Volume
120
Issue
3
Inclusive Pages
198-206
DOI
10.1016/j.ymgme.2016.12.002
Keywords
Adenosine Triphosphate; Animals; Carbamoyl-Phosphate Synthase (Ammonia); Carbamoyl-Phosphate Synthase I Deficiency Disease; Drug Therapy, Combination; Female; Glutamates; Humans; Male; Mice; Mutation; Precision Medicine; Protein Stability; Protein Structure, Tertiary; Rare Diseases
APA Citation
Shi, D., Zhao, G., Ah Mew, N., & Tuchman, M. (2017). Precision Medicine in Rare Disease: Mechanisms of Disparate Effects of n-Carbamyl-l-Glutamate on Mutant CPS1 Enzymes.. Molecular Genetics and Metabolism, 120 (3). http://dx.doi.org/10.1016/j.ymgme.2016.12.002
Peer Reviewed
1
