[1] Caldovic L, Abdikarim I, Narain S, et al. Genotype-phenotype correlations in ornithine transcarbamylase deficiency:A mutation update[J]. J Genet Genomics, 2015,42(5):181-194.
[2] Prasun P, Altinok D, Misra VK. Ornithine transcarbamylase deficiency presenting with acute reversible cortical blindness[J]. J Child Neurol,2015,30(6):782-785.
[3] Lee JH, Kim GH, Yoo HW, et al. OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients[J]. Pediatr Neurol,2014,51(3):354-359.
[4] Goldstein ED, Cannistraro R, Atwal PS, et al. Undiagnosed partial ornithine transcarbamylase deficiency presenting postoperatively as agitated delirium[J].Neurohospitalist,2018,8(2):82-85.
[5] Horwich AL, Fenton WA, Williams KR, et al. Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase[J]. Science,1984,224(4653):1068-1074.
[6] Jang YJ, LaBella AL, Feeney TP, et al. Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene[J]. Hum Mutat,2018,39(4):527-536.
[7] Lopez-Corella E, Ibarra-Gonzalez I, Fernandez-Lainez C, et al. Kernicterus in a boy with ornithine transcarbamylase deficiency: a case report[J].Neuropathology,2017,37(6):586-590.
[8] Choi DE, Lee KW, Shin YT, et al. Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency[J]. J Korean Med Sci,2012,27(5):556-569.
[9] Kim HJ, Park SJ, Park KI, et al. Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency[J]. Korean J Pediatr,2011,54(10):425-428.
[10] Caballero F, Ris J, Puig M, et al. Brain-Dead donors with ornithine transcarbamylase deficiency:A big learning opportunity in clinical evaluation[J]. Am J Transplant,2017,17(8):2229.
[11] Kim GH, Choi JH, Lee HH, et al. Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteinsin vitro[J]. Hum Mutat,2006,27(11):1159.
[12] Kaneko M, Ogasawara K, Go H, et al. Continuous hemodialysis therapy for an extremely low-birthweight infant with hyperammonemia[J]. Pediatr Int,2013,55(5):656-658.
[13] Mukhtar A, Dabbous H, El SR, et al. A novel mutation of the ornithine transcarbamylase gene leading to fatal hyperammonemia in a liver transplant recipient[J]. Am J Transplant,2013,13(4):1084-1087.
[14] Santos CD, Ratzlaff RA, Meder JC, et al. Ornithinetranscarbamylase deficiency:If at first you do not diagnose, try and try again[J].Case Rep Crit Care,2017,2017:8724810. |
