Identification of the plasma metabolomics as early diagnostic markers between biliary atresia and neonatal hepatitis syndrome.

by Dongying Zhao, Lianshu Han, Zhengjuan He, Jun Zhang, Yongjun Zhang
Published 2014-01-01

The Predictive Value of Genetic Analyses in the Diagnosis of Tetrahydrobiopterin (BH4)-Responsiveness in Chinese Phenylalanine Hydroxylase Deficiency Patients

by Tianwen Zhu, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Xuefan Gu
Published 2017-07-01

Analysis of Amino Acid Patterns With Nutrition Regimens in Preterm Infants With Extrauterine Growth Retardation

by Li Wang, Danyang Liu, Haiqing Shen, Ying Wang, Lianshu Han, Zhenjuan He, Zhenjuan He
Published 2020-04-01

Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease

by Na Lin, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Lianshu Han, Yu Wang, Xuefan Gu
Published 2014-02-01

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

by Huishu E., Lili Liang, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han
Published 2021-07-01

Analysis of the IDS gene in 38 patients with Hunter syndrome: the c.879G>A (p.Gln293Gln) synonymous variation in a female create exonic splicing.

by Huiwen Zhang, Jing Li, Xinshun Zhang, Yu Wang, Wenjuan Qiu, Jun Ye, Lianshu Han, Xiaolan Gao, Xuefan Gu
Published 2011-01-01

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

by Zhuwen Gong, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Yu Wang, Wenjun Ji, Ting Chen, Xuefan Gu, Lianshu Han
Published 2021-03-01

Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency

by Deyun Lu, Feng Han, Wenjuan Qiu, Huiwen Zhang, Jun Ye, Lili Liang, Yu Wang, Wenjun Ji, Xia Zhan, Xuefan Gu, Lianshu Han
Published 2020-12-01

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches

by Bing Xiao, Bing Xiao, Wenjuan Qiu, Wenjuan Qiu, Jun Ye, Jun Ye, Huiwen Zhang, Huiwen Zhang, Hong Zhu, Lei Wang, Lili Liang, Lili Liang, Feng Xu, Feng Xu, Ting Chen, Ting Chen, Yan Xu, Yan Xu, Yongguo Yu, Yongguo Yu, Xuefan Gu, Xuefan Gu, Lianshu Han, Lianshu Han
Published 2020-05-01

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type

by Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Bing Xiao, Hong Zhu, Lei Wang, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han
Published 2021-03-01

Chromosomal microarray analysis in fetuses with high-risk prenatal indications: A retrospective study in China

by Xiaomei Luo, Hong Zhu, Lili Wang, Bing Xiao, Yanjie Fan, Hui Ye, Xiaomin Ying, Wenjuan Qiu, Huiwen Zhang, Lianshu Han, Xuefan Gu, Yongguo Yu, Lei Wang
Published 2021-03-01

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies

by Mengyao Dai, Bing Xiao, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Hong Zhu, Lei Wang, Lili Liang, Xia Zhan, Wenjun Ji, Yu Wang, Yongguo Yu, Xuefan Gu, Lianshu Han
Published 2020-10-01

Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study

by Zhuo Huang, Yu Sun, Yanjie Fan, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Hui Yan, Yu Wang, Guorui Hu, Ruifang Wang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Yu Yang, Andrew Dauber, Yongguo Yu, Xue-Fan Gu
Published 2018-08-01

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions

by Yanjie Fan, Yanming Wu, Lili Wang, Yu Wang, Zhuwen Gong, Wenjuan Qiu, Jingmin Wang, Huiwen Zhang, Xing Ji, Jun Ye, Lianshu Han, Xingming Jin, Yongnian Shen, Fei Li, Bing Xiao, Lili Liang, Xia Zhang, Xiaomin Liu, Xuefan Gu, Yongguo Yu
Published 2018-05-01

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

by Lili Liang, Ruixue Shuai, Yue Yu, Wenjuan Qiu, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Jun Ye, Huiwen Zhang, Deyun Lu, Zhuwen Gong, Xia Zhan, Wenjun Ji, Yongguo Yu, Xuefan Gu, Lianshu Han
Published 2021-01-01