6-丙酮酰四氢蝶呤合成酶缺乏致四氢生物蝶呤缺乏症的诊断及1种新突变的发现
何江, 杨曦, 邹红云, 张琼, 余伍忠
Tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency: Diagnosis and a novel mutation identification
HE Jiang, YANG Xi, ZOU Hongyun, ZHANG Qiong, YU Wuzhong
中国生育健康杂志
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2014, (6): 521
-527
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