Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.
Summar ML, Mew NA.
Pediatr Clin North Am. 2018 Apr;65(2):231-246. doi: 10.1016/j.pcl.2017.11.004. Epub 2018 Feb 2.
Urea.
Wang H, Ran J, Jiang T.
Subcell Biochem. 2014;73:7-29. doi: 10.1007/978-94-017-9343-8_2.
Hyperammonemia in Inherited Metabolic Diseases.
Ribas GS, Lopes FF, Deon M, Vargas CR.
Cell Mol Neurobiol. 2022 Nov;42(8):2593-2610. doi: 10.1007/s10571-021-01156-6. Epub 2021 Oct 19.
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Lo RS, Cromie GA, Tang M, Teng K, Owens K, Sirr A, Kutz JN, Morizono H, Caldovic L, Ah Mew N, Gropman A, Dudley AM.
Am J Hum Genet. 2023 May 4;110(5):863-879. doi: 10.1016/j.ajhg.2023.03.019.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.
Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3.
The Role of the Urea Cycle in the Alzheimer's Disease Brain.
Al-Thani NA, Stewart GS, Costello DA.
J Neurochem. 2025 Mar;169(3):e70033. doi: 10.1111/jnc.70033.
Perspectives on urea cycle disorder management: Results of a clinician survey.
Enns GM, Porter MH, Francis-Sedlak M, Burdett A, Vockley J.
Mol Genet Metab. 2019 Sep-Oct;128(1-2):102-108. doi: 10.1016/j.ymgme.2019.07.009. Epub 2019 Jul 18.
Arginase-1 deficiency.
Sin YY, Baron G, Schulze A, Funk CD.
J Mol Med (Berl). 2015 Dec;93(12):1287-96. doi: 10.1007/s00109-015-1354-3. Epub 2015 Oct 14.
Citrulline in the management of patients with urea cycle disorders.
Imbard A, Bouchereau J, Arnoux JB, Brassier A, Schiff M, Bérat CM, Pontoizeau C, Benoist JF, Josse C, Montestruc F, de Lonlay P.
Orphanet J Rare Dis. 2023 Jul 21;18(1):207. doi: 10.1186/s13023-023-02800-8.
The context-specific roles of urea cycle enzymes in tumorigenesis.
Hajaj E, Sciacovelli M, Frezza C, Erez A.
Mol Cell. 2021 Sep 16;81(18):3749-3759. doi: 10.1016/j.molcel.2021.08.005. Epub 2021 Aug 31.
