Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.

Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy.
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DOI：
10.1067/mpd.2001.113361
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发表时间：
2001-05
期刊：
The Journal of pediatrics
影响因子：
--
通讯作者：
T. Tomomasa;K. Kobayashi;H. Kaneko;H. Shimura;T. Fukusato;M. Tabata;Y. Inoue;S. Ohwada;M. Kasahara;Y. Morishita;M. Kimura;T. Saheki;A. Morikawa
T. Tomomasa;K. Kobayashi;H. Kaneko;H. Shimura;T. Fukusato;M. Tabata;Y. Inoue;S. Ohwada;M. Kasahara;Y. Morishita;M. Kimura;T. Saheki;A. Morikawa
中科院分区：
其他
文献类型：
--
作者：
T. Tomomasa;K. Kobayashi;H. Kaneko;H. Shimura;T. Fukusato;M. Tabata;Y. Inoue;S. Ohwada;M. Kasahara;Y. Morishita;M. Kimura;T. Saheki;A. Morikawa

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我们描述了2例成人发作的II型瓜氨酸血症患者，他们在婴儿早期出现一过性低蛋白血症和黄疸。肝组织学显示明显的脂肪变性和纤维化。在患者分别无症状地生活到5岁和16岁后，通过遗传分析进行诊断。
We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.