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Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
Ramosaj A, Borsuk M, Underhaug J, Mathis D, Matsumoto S, Keogh A, Banz V, Pandey AV, Gougeard N, Rubio V, Martinez A, Allegri G, Poms M, Thöny B, Häberle J, Laemmle A. Ramosaj A, et al. J Inherit Metab Dis. 2025 May;48(3):e70043. doi: 10.1002/jimd.70043. J Inherit Metab Dis. 2025. PMID: 40421674 Free PMC article.