Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15.
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 cycle disorders-update.
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K.
J Hum Genet. 2019 Sep;64(9):833-847. doi: 10.1038/s10038-019-0614-4. Epub 2019 May 20.
Urea cycle disorder misdiagnosed as multiple sclerosis: a case report and review of the literature.
Algahtani H, Alameer S, Marzouk Y, Shirah B.
Neuroradiol J. 2018 Apr;31(2):213-217. doi: 10.1177/1971400917715880. Epub 2017 Jun 21.
Urea cycle disorder presenting as bilateral mesial temporal sclerosis - an unusual cause of seizures: a case report and review of the literature.
Wang FS, Goh DLM, Ong HT.
J Med Case Rep. 2018 Jul 15;12(1):208. doi: 10.1186/s13256-018-1750-8.
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C.
Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32.
Diagnosis and treatment of urea cycle disorder in Japan.
Nakamura K, Kido J, Mitsubuchi H, Endo F.
Pediatr Int. 2014 Aug;56(4):506-9. doi: 10.1111/ped.12439.
Modelling urea-cycle disorder citrullinemia type 1 with disease-specific iPSCs.
Yoshitoshi-Uebayashi EY, Toyoda T, Yasuda K, Kotaka M, Nomoto K, Okita K, Yasuchika K, Okamoto S, Takubo N, Nishikubo T, Soga T, Uemoto S, Osafune K.
Biochem Biophys Res Commun. 2017 May 6;486(3):613-619. doi: 10.1016/j.bbrc.2017.03.037. Epub 2017 Mar 14.
Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations.
Diez-Fernandez C, Rüfenacht V, Häberle J.
Hum Mutat. 2017 May;38(5):471-484. doi: 10.1002/humu.23184. Epub 2017 Feb 15.
Treatment and management for children with urea cycle disorder in chronic stage.
Huang X.
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Oct 3;52(6):744-750. doi: 10.3724/zdxbyxb-2023-0378.
