Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations

por Zhou, Wei, Li, Huizhong, Wang, Chuanxia, Wang, Xiuli, Gu, Maosheng
Publicado 2019

Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

por Zhou, Wei, Cai, Heng, Li, Huizhong, Ji, Zhe, Gu, Maosheng
Publicado 2021

Biochemical, Molecular, and Clinical Characterization of Patients With Primary Carnitine Deficiency via Large-Scale Newborn Screening in Xuzhou Area

por Zhou, Wei, Li, Huizhong, Huang, Ting, Zhang, Yan, Wang, Chuanxia, Gu, Maosheng
Publicado 2019

Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis

por Fang, Yuan, Wang, Guangming, Gu, Lize, Wang, Jingjing, Suo, Feng, Gu, Maosheng, Gou, Lingshan
Publicado 2018

Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center

por Gou, Lingshan, Fang, Yuan, Wang, Na, Zhang, Man, Liu, Tianya, Wang, Yi, Hu, Shunan, Zhang, Yan, Wu, Qin, Wang, Yifan, Suo, Feng, Gu, Maosheng
Publicado 2020

Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice

por Gou, Lingshan, Suo, Feng, Wang, Yi, Wang, Na, Wu, Qin, Hu, Shunan, Wang, Peng, Gu, Lize, Zhang, Man, Wang, Chuanxia, Zhang, Yan, Yin, Xin, Zhang, Peng, Xu, Jian, Wang, Xingqi, Gu, Maosheng
Publicado 2021

Chinese expert brief consensus on newborn screening of inherited metabolic disorders during the novel coronavirus infection epidemic

por Liu, Shan, Wang, Dongjuan, Wan, Kexing, Liu, Hao, Zhang, Dayong, Yang, Jing, Yuan, Zhaojian, He, Xiaoyan, Wang, Jie, Ou, Mingcai, Zhu, Wenbin, Qu, Yiping, Zhao, Dehua, Wang, Weipeng, Liu, Shiguo, Gu, Maosheng, Huang, Shuodan, Wang, Zhiguo, Zou, Lin
Publicado 2020

Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations

por He, Falin, Yang, Rulai, Huang, Xinwen, Tian, Yaping, Pei, Xiaofang, Bohn, Mary Kathryn, Zou, Lin, Wang, Yan, Li, Haibo, Wang, Ting, Gu, Maosheng, Jiang, Tao, Chen, Xigui, Zou, Hui, Wei, Hongwei, Tian, Weibing, Tang, Tian, Adeli, Khosrow, Wang, Zhiguo
Publicado 2021