Lian-Shu Han (Lianshu Han)

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 15

Top Topics

Replacement Therapy

High Resolution Mass Spectrometry

Top Venues

Orphanet journal of rare diseases

Pediatric investigation

Journal of medical genetics

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)
Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lian-Shu Han
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Orphanet journal of rare diseases 18 (1) (2023)
Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lian-Shu Han
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Orphanet journal of rare diseases 18 (1) (2023)
Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lian-Shu Han
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Orphanet journal of rare diseases 18 (1) (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)
Shiying Ling, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Deyun Lu, Ting Chen, Xia Zhan, Yu Wang, Xuefan Gu, Lian-Shu Han
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency. Orphanet journal of rare diseases 18 (1) (2023)
Sheng-Nan Wu, Hui-Shu E, Yue Yu, Shi-Ying Ling, Li-Li Liang, Wen-Juan Qiu, Hui-Wen Zhang, Rui-Xue Shuai, Hai-Yan Wei, Chi-Ju Yang, Peng Xu, Xi-Gui Chen, Hui Zou, Ji-Zhen Feng, Ting-Ting Niu, Hai-Li Hu, Kai-Chuang Zhang, De-Yun Lu, Zhu-Wen Gong, Xia Zhan, Wen-Jun Ji, Xue-Fan Gu, Yong-Xing Chen, Lian-Shu Han
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort. World journal of pediatrics : WJP (2023)
Si Ding, Shiying Ling, Lili Liang, Wenjuan Qiu, Huiwen Zhang, Ting Chen, Xia Zhan, Feng Xu, Xuefan Gu, Lian-Shu Han
Late-onset cblC defect: clinical, biochemical and molecular analysis. Orphanet journal of rare diseases 18 (1) (2023)
Si Ding, Lian-Shu Han
Newborn screening for genetic disorders: Current status and prospects for the future. Pediatric investigation 6 (4) (2022)
Si Ding, Lian-Shu Han
Newborn screening for genetic disorders: Current status and prospects for the future. Pediatric investigation 6 (4) (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)
Ting Chen, Lili Liang, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Bing Xiao, Hong Zhu, Lei Wang, Feng Xu, Zhuwen Gong, Xuefan Gu, Lian-Shu Han
Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type. Orphanet journal of rare diseases 16 (1) (2021)
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, Lian-Shu Han
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. Orphanet journal of rare diseases 16 (1) (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)