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urea cycle disorder相关文献:
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.
PMID:30982989
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.
PMID:29502911
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.
PMID:31110235
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.
PMID:28635494
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.
PMID:30007405
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.
PMID:25039902
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.
PMID:22642880
Developing splice-switching oligonucleotides for urea cycle disorder using an integrated diagnostic and therapeutic platform.
Ow JR, Imagawa E, Chen F, Cher WY, Chan SYT, Gurrampati RR, Ramadass V, Loke MF, Tabaglio T, Nishida H, Tsunogai T, Yazaki M, Ch'ng GS, Lakshmanan M, Lee SS, Ying JY, Guccione E, Oishi K, Wee KB.
J Hepatol. 2025 Aug;83(2):411-425. doi: 10.1016/j.jhep.2025.02.007. Epub 2025 Feb 18.
PMID:39978599
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.
PMID:28302489
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.
PMID:28111830
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