Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview

por Dai, Weiqian, Lu, Deyun, Gu, Xuefan, Yu, Yongguo
Publicado 2020

Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency

por Ling, Shiying, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Chen, Ting, Zhan, Xia, Wang, Yu, Gu, Xuefan, Han, Lianshu
Publicado 2023

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

por Lu, Deyun, Han, Feng, Qiu, Wenjuan, Zhang, Huiwen, Ye, Jun, Liang, Lili, Wang, Yu, Ji, Wenjun, Zhan, Xia, Gu, Xuefan, Han, Lianshu
Publicado 2020

(+)-Usnic Acid Inhibits Migration of c-KIT Positive Cells in Human Colorectal Cancer

por Wu, Wei, Hou, Bing, Tang, Changli, Liu, Fucheng, Yang, Jie, Pan, Tao, Si, Ke, Lu, Deyun, Wang, Xiaoxiang, Wang, Jing, Xiong, Xing, Liu, Ji, Xie, Chunguang
Publicado 2018

Clinical, biochemical, and molecular genetic characteristics of patients with primary carnitine deficiency identified by newborn screening in Shanghai, China

por Chang, Siyu, Yang, Yi, Xu, Feng, Ji, Wenjun, Zhan, Xia, Gao, Xiaolan, Chen, Ting, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Zhang, Kaichuang, Gu, Xuefan, Han, Lianshu
Publicado 2022

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

por Zheng, Wanqi, Duan, Ying, Xia, Yu, Liang, Lili, Gong, Zhuwen, Wang, Ruifang, Lu, Deyun, Zhang, Kaichuang, Yang, Yi, Sun, Yuning, Zhang, Huiwen, Han, Lianshu, Gong, Zizhen, Xiao, Bing, Qiu, Wenjuan
Publicado 2023

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening

por Ling, Shiying, Wu, Shengnan, Shuai, Ruixue, Yu, Yue, Qiu, Wenjuan, Wei, Haiyan, Yang, Chiju, Xu, Peng, Zou, Hui, Feng, Jizhen, Niu, Tingting, Hu, Haili, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Gong, Zhuwen, Zhan, Xia, Ji, Wenjun, Gu, Xuefan, Han, Lianshu
Publicado 2022

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

por 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, Ji, Wenjun, Gu, Xuefan, Han, Lianshu
Publicado 2021

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

por Liang, Lili, Shuai, Ruixue, Yu, Yue, 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, Ji, Wenjun, Yu, Yongguo, Gu, Xuefan, Han, Lianshu
Publicado 2021