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

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Chinese Journal of Reproductive Health ›› 2014, Vol. 25 ›› Issue (6) : 521-527.

Tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin synthase deficiency: Diagnosis and a novel mutation identification

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{{article.zuoZheEn_L}}. {{article.title_en}}[J]. {{journal.qiKanMingCheng_EN}}, 2014, 25(6): 521-527

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