Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

被引：115

作者：

Tazawa, Y ^{[1
]}

Kobayashi, K

Ohura, T

Abukawa, D

Nishinomiya, F

Hosoda, Y

Yamashita, M

Nagata, I

Kono, Y

Yasuda, T

Yamaguchi, N

Saheki, T

机构：

[1] Tottori Univ, Fac Med, Dept Pediat, Yonago, Tottori, Japan

[2] Kagoshima Univ, Fac Med, Dept Biochem, Kagoshima 890, Japan

[3] Tohoku Univ, Sch Med, Dept Pediat, Sendai, Miyagi 980, Japan

[4] Akita Univ, Sch Med, Dept Pediat, Akita 010, Japan

来源：

JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 05期

基金：

日本学术振兴会;

关键词：

D O I：

10.1067/mpd.2001.113264

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Adult-onset type II citrullinemia, characterized by a liver-specific argininosuccinate synthetase deficiency, is caused by a deficiency of citrin that is encoded by the SLC25A13 gene. Three patients with infantile cholestatic jaundice were found to have mutations of the SLC25A13 gene. Adult-onset type II citrullinemia may be associated with infantile cholestatic disease.

引用

页码：735 / 740

页数：6

共 31 条

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