浙江大学计算机学院科研团队,科研团队

这篇内容涉及新生儿代谢和基因筛查的研究,重点关注新生儿肝内胆汁淤积症和脊髓性肌萎缩症的筛查。研究指出结合代谢和遗传筛查对于早期发现和治疗疾病的重要性,并报告了在中国使用DNA质谱技术进行脊髓性肌萎缩症筛查的成果。此外,还分析了浙江省新生儿氨基酸代谢疾病的筛查和随访情况,以及中国新生儿MCC缺陷病的基因突变鉴定。
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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.

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