黄新文
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学历学位:博士
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导师类型：专业硕士
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职 称：主任医师
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所在院区：滨江院区
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职 务：科副主任
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科 室：遗传代谢科
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邮 箱：xinwenhuang@126.com
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学 科：无
个人简介
研究方向：
儿童遗传代谢病筛查及诊治
重要成果：
[1]Yiming Lin,Yaru Liu,Lin Zhu,Kaixing Le,Yuyan Shen,Chiju Yang,Xigui Chen,Haili Hu,Qingqing Ma,Xueqin Shi,Zhenzhen Hu,Jianbin Yang,Yaping Shen,Chien‐Hsing Lin,Chenggang Huang,Xinwen Huang*. Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency[J]. Journal of Inherited Metabolic Disease,2020,43(3).
[2]Lin Yiming,Lin Chien-Hsing,Yin Xiaoshan,Zhu Lin,Yang Jianbin,Shen Yuyan,Yang Chiju,Chen Xigui,Hu Haili,Ma Qingqing,Shi Xueqin,Shen Yaping,Hu Zhenzhen,Huang Chenggang,Huang Xinwen*. Newborn Screening for Spinal Muscular Atrophy in China Using DNA Mass Spectrometry.[J]. Frontiers in genetics,2019,10.
[3]黄新文,张玉,洪芳,郑静,杨建滨,童凡,毛华庆,黄晓磊,周雪莲,杨茹莱,赵正言.浙江省新生儿氨基酸代谢疾病筛查及随访分析[J].浙江大学学报(医学版),2017,46(03):233-239.
[4]Yang L,Yang J,Zhang T,Weng C,Hong F,Tong F,Yang R,Yin X,Yu P,Huang X*,Qi M. Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.[J]. Clinical genetics,2015,88(5).
[5]Joseph Kagunda Kimani,Tianying Wei,Kim Chol,Ying Li,Ping Yu,Sheng Ye,Xinwen Huang*,Ming Qi. Functional analysis of novel splicing and missense mutations identified in the ASS1 gene in classical citrullinemia patients[J]. Clinica Chimica Acta,2015,438.
