Zhang Z, Wang X, Zhang J, Guan X, Wang Y, Hong D
Orphanet J Rare Dis. 2025; 20(1):9.
PMID: 39780260
PMC: 11708073.
DOI: 10.1186/s13023-025-03529-2.
Thomas J, George A, Mrittika S, Ahmad B, Wilcox G
Cureus. 2024; 16(11):e74028.
PMID: 39583614
PMC: 11581830.
DOI: 10.7759/cureus.74028.
Zhang C, Shan J, Su J, Wang G, Huo Q, Xu R
Neurol Genet. 2024; 10(6):e200204.
PMID: 39559585
PMC: 11573262.
DOI: 10.1212/NXG.0000000000200204.
Miki R, Nomura R, Iijima Y, Kubota S, Takasugi N, Iwawaki T
Arch Toxicol. 2024; 99(2):563-574.
PMID: 39465421
PMC: 11775073.
DOI: 10.1007/s00204-024-03902-3.
Tran D, Tran T, Luong Q, Tran M
Heliyon. 2024; 10(16):e36003.
PMID: 39220945
PMC: 11365392.
DOI: 10.1016/j.heliyon.2024.e36003.
Variant analysis and PGT-M of OTC gene in a Chinese family with ornithine carbamoyltransferase deficiency.
Zhou Y, Jiang X, Zhang Y, Zhang Y, Sun F, Ma Y
BMC Pregnancy Childbirth. 2024; 24(1):491.
PMID: 39039447
PMC: 11265161.
DOI: 10.1186/s12884-024-06696-5.
Revisiting the Roles of Catalytic Residues in Human Ornithine Transcarbamylase.
Watson S, Micheloni E, Ngu L, Barnsley K, Makowski L, Beuning P
Biochemistry. 2024; 63(14):1858-1875.
PMID: 38940639
PMC: 11256359.
DOI: 10.1021/acs.biochem.4c00206.
A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants.
Piccolo D, Zarouchlioti C, Bellingham J, Guarascio R, Ziaka K, Molday R
Int J Mol Sci. 2024; 25(8).
PMID: 38674104
PMC: 11050442.
DOI: 10.3390/ijms25084521.
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Sen K, Izem R, Long Y, Jiang J, Konczal L, McCarter R
Mol Genet Genomic Med. 2024; 12(4):e2443.
PMID: 38634223
PMC: 11024633.
DOI: 10.1002/mgg3.2443.
Development of α-Cyclodextrin-Based Orally Disintegrating Tablets for 4-Phenylbutyrate.
Commey K, Enaka A, Nakamura R, Yamamoto A, Tsukigawa K, Nishi K
Pharmaceutics. 2024; 16(1).
PMID: 38258093
PMC: 10818935.
DOI: 10.3390/pharmaceutics16010082.
Long-term follow-up of children with carbamoyl phosphate synthase 1 deficiency detected in newborn screening.
Zhang Z, Tong F, Chen C, Zhang T, Qian G, Yang X
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023; 52(6):721-726.
PMID: 37986659
PMC: 10764181.
DOI: 10.3724/zdxbyxb-2023-0359.
Study of the Structural Chemistry of the Inclusion Complexation of 4-Phenylbutyrate and Related Compounds with Cyclodextrins in Solution: Differences in Inclusion Mode with Cavity Size Dependency.
Commey K, Nakatake A, Enaka A, Nakamura R, Nishi K, Tsukigawa K
Int J Mol Sci. 2023; 24(20).
PMID: 37894771
PMC: 10606765.
DOI: 10.3390/ijms242015091.
Genetic Therapy Approaches for Ornithine Transcarbamylase Deficiency.
Yilmaz B, Gissen P
Biomedicines. 2023; 11(8).
PMID: 37626723
PMC: 10452060.
DOI: 10.3390/biomedicines11082227.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Yilmaz B, Baruteau J, Arslan N, Aydin H, Barth M, Bozaci A
Life (Basel). 2022; 12(11).
PMID: 36362876
PMC: 9695856.
DOI: 10.3390/life12111721.
Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency.
Bai R, He A, Guo J, Li Z, Yu X, Zeng J
Front Neurosci. 2022; 16:1025572.
PMID: 36340787
PMC: 9634248.
DOI: 10.3389/fnins.2022.1025572.
Psychological Stress Triggers a Hyperammonemia Episode in Patient with Ornithine Transcarbamylase Deficiency.
Fernandez-Elias V, Tornero-Aguilera J, Parraca J, Clemente-Suarez V
Int J Environ Res Public Health. 2022; 19(18).
PMID: 36141788
PMC: 9517620.
DOI: 10.3390/ijerph191811516.
Novel Gene-Correction-Based Therapeutic Modalities for Monogenic Liver Disorders.
Ghasemzad M, Hashemi M, Lavasani Z, Hossein-Khannazer N, Bakhshandeh H, Gramignoli R
Bioengineering (Basel). 2022; 9(8).
PMID: 36004917
PMC: 9404740.
DOI: 10.3390/bioengineering9080392.
Transient Cortical Blindness in a Toddler With Heterozygous Ornithine Transcarbamylase Deficiency.
Eskander P, Romani S
Cureus. 2022; 13(11):e20046.
PMID: 34987927
PMC: 8717935.
DOI: 10.7759/cureus.20046.
Continuous Renal Replacement Therapy for Two Neonates With Hyperammonemia.
Markham C, Williams C, Miller C, Grange D, Davis T, Remy K
Front Pediatr. 2021; 9:732354.
PMID: 34805036
PMC: 8602909.
DOI: 10.3389/fped.2021.732354.
Hyperammonemia in Inherited Metabolic Diseases.
Ribas G, Lopes F, Deon M, Vargas C
Cell Mol Neurobiol. 2021; 42(8):2593-2610.
PMID: 34665389
PMC: 11421644.
DOI: 10.1007/s10571-021-01156-6.