Huiwen Zhang

Publication Activity (10 Years)

Years Active: 2019-2023
Publications (10 Years): 14

Top Topics

Intellectual Disability

End Stage Renal Disease

Top Venues

Journal of inherited metabolic disease

Journal of medical genetics

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Ying Duan, Wanqi Zheng, Yu Xia, Huiwen Zhang, Lili Liang, Ruifang Wang, Yi Yang, Kaichuang Zhang, Deyun Lu, Yuning Sun, Lian-Shu Han, Yong-Guo Yu, Xuefan Gu, Yu Sun, Bing Xiao, Wenjuan Qiu
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients. Journal of medical genetics (2023)
Lin Zhong, Xiaolan Gao, Yu Wang, Wenjuan Qiu, Lianshu Han, Xuefan Gu, Huiwen Zhang
Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study. Clinical genetics (2023)
Lili Liang, Shiying Ling, Yue Yu, Ruixue Shuai, Wenjuan Qiu, Huiwen Zhang, Linghua Shen, Shengnan Wu, Haiyan Wei, Yongxing Chen, Chiju Yang, Peng Xu, Xigui Chen, Hui Zou, Jizhen Feng, Tingting Niu, Haili Hu, Zhuwen Gong, Ting Chen, Xia Zhan, Xuefan Gu, Lian-Shu Han
Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases. Journal of medical genetics (2023)
Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zhang
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease 47 (2) (2023)
Yingjun Liang, Xiaolan Gao, Deyun Lu, Huiwen Zhang, null Zhang
Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene. Metabolic brain disease (2023)
Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zhang
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease 47 (2) (2023)
Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zhang
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease 47 (2) (2023)
Huan Liang, Xia Zhan, Yu Wang, Gustavo H B Maegawa, Huiwen Zhang
Development and validation of a new genotype-phenotype correlation for Niemann-Pick disease type C1. Journal of inherited metabolic disease (2023)
Mengni Yi, Yu Wang, Xiaolan Gao, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Gustavo H B Maegawa, Huiwen Zhang
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Journal of inherited metabolic disease 45 (3) (2022)
Yu Sun, Jing Peng, Desheng Liang, Xiantao Ye, Na Xu, Linlin Chen, Dan Yan, Huiwen Zhang, Bing Xiao, Wenjuan Qiu, Yiping Shen, Nan Pang, Yingdi Liu, Chen Liang, Zailong Qin, Jingsi Luo, Fei Chen, Jingmin Wang, Zhixin Zhang, Haiyan Wei, Juan Du, Huifang Yan, Ruoyu Duan, Junyu Wang, Yu Zhang, Bingtao Hao, Kun Sun, Lingqian Wu, Yong-Guo Yu
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study. Human mutation 43 (5) (2022)
Xiaomei Luo, Ying Duan, Di Fang, Yu Sun, Bing Xiao, Huiwen Zhang, Lian-Shu Han, Lili Liang, Zhuwen Gong, Xuefan Gu, Yong-Guo Yu, Wenjuan Qiu
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Human mutation 43 (5) (2022)
Jiayue Hu, Gustavo H B Maegawa, Xia Zhan, Xiaolan Gao, Yu Wang, Feng Xu, Wenjuan Qiu, Lian-Shu Han, Xuefan Gu, Huiwen Zhang
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B. Human mutation 42 (5) (2021)
Yue Yu, Ruixue Shuai, Lili Liang, 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, Xuefan Gu, Lian-Shu Han
Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut-type methylmalonic acidemia: A retrospective study. Molecular genetics & genomic medicine 9 (11) (2021)
Lili Liang, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Yong-Guo Yu, Tianwen Zhu, Feng Xu, Xia Zhan, Peizhong Bao, Wenjun Ji, Xuefan Gu
Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia. Journal of clinical laboratory analysis 34 (3) (2019)