1. A new case of malonyl‐CoA decarboxylase deficiency with mild clinical features. Issue 5 (9th February 2016) Authors: Liu, Huan; Tan, Dongqiong; Han, Lianshu; Ye, Jun; Qiu, Wenjuan; Gu, Xuefan; Zhang, Huiwen Journal: American journal of medical genetics Issue: Volume 170:Issue 5(2016) Page Start: 1347 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening. (17th May 2015) Authors: Han, Lianshu; Wu, Shengnan; Ye, Jun; Qiu, Wenjuan; Zhang, Huiwen; Gao, Xiaolan; Wang, Yu; Gong, Zhuwen; Jin, Jing; Gu, Xuefan Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening. (17th May 2015) Authors: Han, Lianshu; Wu, Shengnan; Ye, Jun; Qiu, Wenjuan; Zhang, Huiwen; Gao, Xiaolan; Wang, Yu; Gong, Zhuwen; Jin, Jing; Gu, Xuefan Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2300 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study. Issue 6 (22nd March 2023) Authors: Zhong, Lin; Gao, Xiaolan; Wang, Yu; Qiu, Wenjuan; Han, Lianshu; Gu, Xuefan; Zhang, Huiwen Journal: Clinical genetics Issue: Volume 103:Issue 6(2023) Page Start: 655 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B. Issue 5 (19th March 2021) Authors: Hu, Jiayue; Maegawa, Gustavo H.B.; Zhan, Xia; Gao, Xiaolan; Wang, Yu; Xu, Feng; Qiu, Wenjuan; Han, Lianshu; Gu, Xuefan; Zhang, Huiwen Journal: Human mutation Issue: Volume 42:Issue 5(2021) Page Start: 614 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China. Issue 5 (24th February 2022) Authors: Luo, Xiaomei; Duan, Ying; Fang, Di; Sun, Yu; Xiao, Bing; Zhang, Huiwen; Han, Lianshu; Liang, Lili; Gong, Zhuwen; Gu, Xuefan; Yu, Yongguo; Qiu, Wenjuan Journal: Human mutation Issue: Volume 43:Issue 5(2022) Page Start: 557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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. Issue 11 (20th October 2021) Authors: Yu, Yue; Shuai, Ruixue; Liang, Lili; Qiu, Wenjuan; Shen, Linghua; Wu, Shengnan; Wei, Haiyan; Chen, Yongxing; Yang, Chiju; Xu, Peng; Chen, Xigui; Zou, Hui; Feng, Jizhen; Niu, Tingting; Hu, Haili; Ye, Jun; Zhang, Huiwen; Lu, Deyun; Gong, Zhuwen; Zhan, Xia Journal: Molecular genetics & genomic medicine Issue: Volume 9:Issue 11(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia. Issue 3 (24th November 2019) Authors: Liang, Lili; Ye, Jun; Han, Lianshu; Qiu, Wenjuan; Zhang, Huiwen; Yu, Yongguo; Zhu, Tianwen; Xu, Feng; Zhan, Xia; Bao, Peizhong; Ji, Wenjun; Gu, Xuefan Journal: Journal of clinical laboratory analysis Issue: Volume 34:Issue 3(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study. (7th February 2020) Authors: Sun, Yu; Ye, Xiantao; Fan, Yanjie; Wang, Lili; Luo, Xiaomei; Liu, Huili; Gao, Xueren; Gong, Zhuwen; Wang, Yu; Qiu, Wenjuan; Zhang, Huiwen; Han, Lianshu; Liang, Lili; Ye, Hui; Xiao, Bing; Gu, Xuefan; Yu, Yongguo Journal: Clinical chemistry Issue: Volume 66:Number 3(2020) Page Start: 455 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. Issue 3 (7th March 2022) Authors: Yi, Mengni; Wang, Yu; Gao, Xiaolan; Han, Lianshu; Qiu, Wenjuan; Gu, Xuefan; Maegawa, Gustavo H. B.; Zhang, Huiwen Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 3(2022) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗