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Proceedings: Case of hyperammonaemia due to ornithine transcarbamylase deficiency.会议记录：鸟氨酸转氨甲酰酶缺乏所致高氨血症病例
Arch Dis Child. 1974 Sep;49(9):747. doi: 10.1136/adc.49.9.747-a.
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Lethal hyperammonaemic coma due to ornithine transcarbamylase deficiency presenting as brain stem encephalitis in a previously asymptomatic ten-year-old boy.一名既往无症状的10岁男孩因鸟氨酸转氨甲酰酶缺乏症导致致命性高氨血症昏迷，表现为脑干脑炎。
J Inherit Metab Dis. 1987;10(3):271. doi: 10.1007/BF01800076.
3
Valproate-induced lethal hyperammonaemic coma in a carrier of ornithine carbamoyltransferase deficiency.
J Inherit Metab Dis. 1991;14(5):836-7. doi: 10.1007/BF01799961.
4
Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency.一名患有杂合性鸟氨酸转氨甲酰酶缺乏症的女性因肠外营养导致高氨血症昏迷。
Gastroenterology. 1995 Jul;109(1):282-4. doi: 10.1016/0016-5085(95)90295-3.
5
Ornithine transcarbamylase deficiency in pregnancy.孕期鸟氨酸转氨甲酰酶缺乏症
J Inherit Metab Dis. 2005;28(2):237-40. doi: 10.1007/s10545-005-5514-4.
6
A 3-base pair in-frame deletion in exon 8 (delGlu272/273) of the ornithine transcarbamylase gene in late-onset hyperammonemic coma.
Hum Mutat. 1996;8(4):373-4. doi: 10.1002/(SICI)1098-1004(1996)8:4<373::AID-HUMU13>3.0.CO;2-#.
7
An inherited enzyme deficiency resulting in hyperammonaemia and coma in a burn patient.
Burns Incl Therm Inj. 1987 Jun;13(3):229-31. doi: 10.1016/0305-4179(87)90171-9.
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Lethal ornithine transcarbamylase deficiency in a female neonate.
J Inherit Metab Dis. 1987;10(3):274-5. doi: 10.1007/BF01800079.
9
Immunochemical study of ornithine transcarbamylase deficiency.
J Inherit Metab Dis. 1984;7(3):131-2. doi: 10.1007/BF01801772.
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Study of enzyme defect in a case of ornithine transcarbamylase deficiency.鸟氨酸转氨甲酰酶缺乏症一例的酶缺陷研究。
Diabete Metab. 1978 Dec;4(4):239-41.
引用本文的文献
1
Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.鸟氨酸氨甲酰基转移酶缺乏症中的嘧啶和嘌呤代谢物。
J Inherit Metab Dis. 1981;4(1):27-31. doi: 10.1007/BF02263578.
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