Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome

机译：鸟氨酸氨基甲酰基转移酶缺乏症与基础高氨血症高胰岛素血症综合征的管理

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>Patient: Female, 66>Final Diagnosis: Ornithine carbamoyltransferase deficency with underlying hyperammonia hyperinsulinemia syndrome>Symptoms: Seizure>Medication: —>Clinical Procedure: —>Specialty: General and Internal MedicineObjective:>Rare co-existance of disease or pathology

机译：>患者：66岁，女性 >最终诊断：鸟氨酸氨基甲酰转移酶缺乏症伴有潜在的高氨性高胰岛素血症综合征 >症状：癫痫发作 >药物治疗：— >临床程序：- >专长：普通和内科目标：>罕见的疾病或病理共存

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期刊名称 The American Journal of Case Reports
作者
Neer Dhillon; Andrew Stevens;
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作者单位

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年(卷),期 2019(20),-1
年度 2019
页码 1085–1088
总页数 4
原文格式 PDF
正文语种
中图分类
关键词
Diazoxide Hyperammonemia Hyperinsulinism Hypoglycemia Ornithine Carbamoyltransferase Deficiency Disease Urea Cycle Disorders Inborn;

机译：二氧化氮;高氨血症;高胰岛素血症;低血糖症;鸟氨酸氨基甲酰转移酶缺乏症;尿素循环障碍;先天性;

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专利

1. Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency [J] . Krijt Jakub, Sokolova Jitka, Jesina Pavel, Clinical chemistry and laboratory medicine: CCLM . 2017,第8期

机译：血液中肝酶的活性血液中的血液：LC-MS / MS测定用于非侵入性诊断的鸟氨酸氨基甲酰基转移酶缺乏
2. A female carrier of ornithine carbamoyltransferase deficiency masquerading as attention deficit-hyperactivity disorder [J] . KimS.H., LeeJ.S., LimB.C., Brain & Development . 2014,第8期

机译：伪装为鸟氨酸氨基甲酰基转移酶缺乏症的女性携带者为注意缺陷多动障碍
3. Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency [J] . TakenouchiT., TsukaharaY., HorikawaR., American journal of medical genetics, Part A . 2014,第10期

机译：四十岁的木乃伊脐带组织对鸟氨酸氨基甲酰基转移酶缺乏症的回顾性分子诊断
4. Improving Fuzzy Syndrome Differentiation for Deficiency Syndromes in Traditional Chinese Medicine [C] . Po-Shen Lin, Nai-Wei Lin, Ming-Hsien Yeh, IEEE International Conference on Consumer Electronics - Taiwan . 2020

机译：改善中医虚证的模糊证候辨析
5. The Effect of Hyperinsulinemia on Follicular Function, Ovulation, and Subsequent Oocyte Fertilization and Early Embryonic Quality in a Potential Bovine Model of Polycystic Ovarian Syndrome. [D] . Hackbart, Katherine Suzanne. 2013

机译：高胰岛素血症对潜在的牛多囊卵巢综合征模型中卵泡功能，排卵和随后的卵母细胞受精及早期胚胎质量的影响。
6. Liver Engraftment and Repopulation by In Vitro Expanded Adult Derived Human Liver Stem Cells in a Child with Ornithine Carbamoyltransferase Deficiency [O] . Etienne M Sokal, Xavier Stéphenne, Chris Ottolenghi, 2014

机译：肝移植和人口繁殖的鸟氨酸氨基甲酰基转移酶缺乏症的儿童扩大成人衍生的人类肝干细胞。
7. Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome [O] . Neer Dhillon, Andrew Stevens 2019

机译：鸟氨酸氨基甲酰基转移酶缺乏症与潜在的高血管血症综合征综合征

Management of Ornithine Carbamoyltransferase Deficiency with Underlying Hyperammonia Hyperinsulinemia Syndrome

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