Successful newborn screening for Gaucher disease using fluorometric assay in China
Kang, Lulu, Zhan, Xia, Gu, Xuefan, Zhang, Huiwen
Published in Journal of human genetics (01.08.2017)
Published in Journal of human genetics (01.08.2017)
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X-ray induced photodynamic therapy (PDT) with a mitochondria-targeted liposome delivery system
Gu, Xuefan, Shen, Chao, Li, Hua, Goldys, Ewa M, Deng, Wei
Published in Journal of nanobiotechnology (10.06.2020)
Published in Journal of nanobiotechnology (10.06.2020)
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Journal Article
Late-onset cblC defect: clinical, biochemical and molecular analysis
Ding, Si, Ling, Shiying, Liang, Lili, Qiu, Wenjuan, Zhang, Huiwen, Chen, Ting, Zhan, Xia, Xu, Feng, Gu, Xuefan, Han, Lianshu
Published in Orphanet journal of rare diseases (28.09.2023)
Published in Orphanet journal of rare diseases (28.09.2023)
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Lubricity and Rheological Properties of Highly Dispersed Graphite in Clay-Water-Based Drilling Fluids
Wang, Quande, Slaný, Michal, Gu, Xuefan, Miao, Zhipeng, Du, Weichao, Zhang, Jie, Gang, Chen
Published in Materials (30.01.2022)
Published in Materials (30.01.2022)
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Newborn screening of maple syrup urine disease and the effect of early diagnosis
Chen, Ting, Lu, Deyun, Xu, Feng, Ji, Wenjun, Zhan, Xia, Gao, Xiaolan, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan, Han, Lianshu
Published in Clinica chimica acta (01.08.2023)
Published in Clinica chimica acta (01.08.2023)
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Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency
Ling, Shiying, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Chen, Ting, Zhan, Xia, Wang, Yu, Gu, Xuefan, Han, Lianshu
Published in Orphanet journal of rare diseases (08.03.2023)
Published in Orphanet journal of rare diseases (08.03.2023)
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Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy
Hong, Sha, Zhu, Tianwen, Zheng, Simin, Zhan, Xia, Xu, Feng, Gu, Xuefan, Liang, Lili
Published in Metabolic brain disease (01.12.2021)
Published in Metabolic brain disease (01.12.2021)
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Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
Hao, Lili, Liang, Lili, Gao, Xiaolan, Zhan, Xia, Ji, Wenjun, Chen, Ting, Xu, Feng, Qiu, Wenjuan, Zhang, Huiwen, Gu, Xuefan, Han, Lianshu
Published in Molecular genetics and metabolism (01.01.2024)
Published in Molecular genetics and metabolism (01.01.2024)
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SID1 transmembrane family, member 2 (Sidt2): A novel lysosomal membrane protein
Jialin, Gao, Xuefan, Gu, Huiwen, Zhang
Published in Biochemical and biophysical research communications (26.11.2010)
Published in Biochemical and biophysical research communications (26.11.2010)
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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports
Luo, Xiaomei, Hu, Jiacheng, Gao, Xueren, Fan, Yanjie, Sun, Yu, Gu, Xuefan, Qiu, Wenjuan
Published in BMC medical genetics (08.04.2020)
Published in BMC medical genetics (08.04.2020)
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Synthesis of New Hydrazone Compounds from Natural Grease and Investigation as Flow Improver for Crude Oil
Zhang, Shu, Wang, Longyu, Cao, Pengzhang, Gu, Xuefan, Zhang, Huani, Chen, Gang
Published in Petroleum chemistry (01.05.2023)
Published in Petroleum chemistry (01.05.2023)
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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Lu, Deyun, Han, Feng, Qiu, Wenjuan, Zhang, Huiwen, Ye, Jun, Liang, Lili, Wang, Yu, Ji, Wenjun, Zhan, Xia, Gu, Xuefan, Han, Lianshu
Published in Orphanet journal of rare diseases (03.12.2020)
Published in Orphanet journal of rare diseases (03.12.2020)
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Journal Article
Characteristics of Pompe disease in China: a report from the Pompe registry
Zhao, Yuying, Wang, Zhaoxia, Lu, Jiahong, Gu, Xuefan, Huang, Yonglan, Qiu, Zhengqing, Wei, Yanping, Yan, Chuanzhu
Published in Orphanet journal of rare diseases (03.04.2019)
Published in Orphanet journal of rare diseases (03.04.2019)
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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays
Fan, Yanjie, Wang, Lili, Sun, Yu, Xu, Ting, Gong, Zhuwen, Zhao, Qianfeng, Qiu, Wenjuan, Liang, Lili, Xiao, Bing, Zhang, Huiwen, Han, Lianshu, Lin, Fujun, Xu, Rang, Gu, Xuefan, Yu, Yongguo
Published in Journal of human genetics (01.04.2021)
Published in Journal of human genetics (01.04.2021)
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Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China
Chen, Xueru, Qiu, Wenjuan, Ye, Jun, Han, Lianshu, Gu, Xuefan, Zhang, Huiwen
Published in Journal of human genetics (01.04.2016)
Published in Journal of human genetics (01.04.2016)
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Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism
Fan, Xin, Fu, Chunyun, Shen, Yiping, Li, Chuan, Luo, Shiyu, Li, Qifei, Luo, Jingsi, Su, Jiasun, Zhang, Shujie, Hu, Xuyun, Chen, Rongyu, Gu, Xuefan, Chen, Shaoke
Published in Clinica chimica acta (01.05.2017)
Published in Clinica chimica acta (01.05.2017)
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