Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
复制标题
由于新发现的突变导致一岁男孩出现肾功能衰竭，导致部分次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏。
DOI：
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发表时间：
2008
期刊：
影响因子：
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通讯作者：
Yamada Y
中科院分区：
文献类型：
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作者：
Ishida Y;Ishimaru A;Tauchi H;Yamaguchi A;Yokoyama M;Hiroi K;Wakamatsu N;Yamada Y
