Title

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

Peer Reviewed

1

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