Citrullinemia with defective urea production.

Citrullinemia with defective urea production.
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瓜氨酸血症伴尿素生成缺陷。

DOI：
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发表时间：
1967
期刊：
Pediatrics
影响因子：
8
通讯作者：
Mary L. Efron
Mary L. Efron
中科院分区：
医学2区
文献类型：
--
作者：
Grant Morrow;Lewis A. Barness;Mary L. Efron

文献摘要

被引文献

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第二例瓜氨酸血症是一名21个月大的女性。与以往尿素循环酶缺陷的患者相比，本例患儿不能产生正常量的尿素。身体发育正常，除了小头症。不幸的是，她的精神运动进展缓慢。
The second case of citrullinemia is described in a 21-month-old female. In contrast to previous patients with urea cycle enzyme defects, the present child fails to produce normal amounts of urea. Physical growth has been adequate, except for microcephaly. Unfortunately, her psychomotor milestones are slow. Triiodothyronine, pyridoxine, and neomycin were given with no beneficial effects. Nitrogen balances in addition to protein and arginine loading studies suggest alternate pathways for the degradation of arginine.