Search Results - "Gu, Xuefan"

Sidt2 regulates hepatocellular lipid metabolism through autophagy by Chen, Xueru, Gu, Xuefan, Zhang, Huiwen

“…SID1 transmembrane family member 2 (Sidt2) is an integral lysosomal membrane protein. To investigate its explicit function, we generated a global Sidt2…”
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Successful newborn screening for Gaucher disease using fluorometric assay in China by Kang, Lulu, Zhan, Xia, Gu, Xuefan, Zhang, Huiwen

“…Gaucher disease (GD) is an inherited metabolic disorder that involves accumulation of glycolipid glucocerebroside in monocyte-macrophage cells, which can…”
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X-ray induced photodynamic therapy (PDT) with a mitochondria-targeted liposome delivery system by Gu, Xuefan, Shen, Chao, Li, Hua, Goldys, Ewa M, Deng, Wei

“…In this study, we constructed multifunctional liposomes with preferentially mitochondria-targeted feature and gold nanoparticles-assisted synergistic…”
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Late-onset cblC defect: clinical, biochemical and molecular analysis by Ding, Si, Ling, Shiying, Liang, Lili, Qiu, Wenjuan, Zhang, Huiwen, Chen, Ting, Zhan, Xia, Xu, Feng, Gu, Xuefan, Han, Lianshu

“…Abstract Background cblC defect is the most common type of methylmalonic acidemia in China. Patients with late-onset form (>1 year) are often misdiagnosed due…”
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Newborn screening of maple syrup urine disease and the effect of early diagnosis by Chen, Ting, Lu, Deyun, Xu, Feng, Ji, Wenjun, Zhan, Xia, Gao, Xiaolan, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Gu, Xuefan, Han, Lianshu

“…•The incidence of MSUD was estimated to be 1:219,472 in Shanghai, China.•An improved screening method was proposed for MSUD newborn screening.•Newborn…”
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Lubricity and Rheological Properties of Highly Dispersed Graphite in Clay-Water-Based Drilling Fluids by Wang, Quande, Slaný, Michal, Gu, Xuefan, Miao, Zhipeng, Du, Weichao, Zhang, Jie, Gang, Chen

“…Improving the tribological characteristics of water-based drilling fluids by adding graphene-based lubricants has garnered attention because of the potential…”
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Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency by Ling, Shiying, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Lu, Deyun, Chen, Ting, Zhan, Xia, Wang, Yu, Gu, Xuefan, Han, Lianshu

“…This study aimed to describe the clinical, biochemical, and molecular characteristics of Chinese patients with holocarboxylase synthetase (HLCS) deficiency,…”
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Aggregation of Gold Nanoparticles Caused in Two Different Ways Involved in 4-Mercaptophenylboronic Acidand Hydrogen Peroxide by Li, Runmei, Gu, Xuefan, Liang, Xingtang, Hou, Shi, Hu, Daodao

“…The difference in gold nanoparticle (AuNPs) aggregation caused by different mixing orders of AuNPs, 4-mercaptophenylboronic acid (4-MPBA), and hydrogen…”
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Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease by Lin, Na, Zhang, Huiwen, Qiu, Wenjuan, Ye, Jun, Han, Lianshu, Wang, Yu, Gu, Xuefan

“…Acid sphingomyelinase (ASMase)-deficient Niemann-Pick disease (NPD) is caused by mutations in the sphingomyelin phosphodiesterase 1 (SMPD1) gene, resulting in…”
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Gene expression profiles in the brain of phenylketonuria mouse model reversed by the low phenylalanine diet therapy by Hong, Sha, Zhu, Tianwen, Zheng, Simin, Zhan, Xia, Xu, Feng, Gu, Xuefan, Liang, Lili

“…To gain insight into the potential protective mechanisms of low phenylalanine diet (LPD) in phenylketonuria (PKU), gene expression profiles were studied in the…”
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Characteristics of Pompe disease in China: a report from the Pompe registry by Zhao, Yuying, Wang, Zhaoxia, Lu, Jiahong, Gu, Xuefan, Huang, Yonglan, Qiu, Zhengqing, Wei, Yanping, Yan, Chuanzhu

“…Pompe disease is a rare, progressive, autosomal recessive lysosomal storage disorder caused by mutations in the acid α-glucosidase gene. This is the first…”
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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 by Hao, Lili, Liang, Lili, Gao, Xiaolan, Zhan, Xia, Ji, Wenjun, Chen, Ting, Xu, Feng, Qiu, Wenjuan, Zhang, Huiwen, Gu, Xuefan, Han, Lianshu

“…Inborn errors of metabolism (IEMs) frequently result in progressive and irreversible clinical consequences if not be diagnosed or treated timely. The tandem…”
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SID1 transmembrane family, member 2 (Sidt2): A novel lysosomal membrane protein by Jialin, Gao, Xuefan, Gu, Huiwen, Zhang

“…► Sidt2 is a lysosomal integral membrane protein. ► Sidt2 is a highly glycosylated protein that shows tissue-specific expression. ► Structural considerations…”
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Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports by Luo, Xiaomei, Hu, Jiacheng, Gao, Xueren, Fan, Yanjie, Sun, Yu, Gu, Xuefan, Qiu, Wenjuan

“…PYGL mutations can cause liver phosphorylase deficiency, resulting in a glycogenolysis disorder, namely, glycogen storage disease (GSD) VI. The disease is…”
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Synthesis of New Hydrazone Compounds from Natural Grease and Investigation as Flow Improver for Crude Oil by Zhang, Shu, Wang, Longyu, Cao, Pengzhang, Gu, Xuefan, Zhang, Huani, Chen, Gang

“…In this work, salicylaldehyde hydrazone (SAH), different from the traditional polymers, was synthesized from natural oils (castor, SA С H, rapeseed, SA R H and…”
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Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency by Lu, Deyun, Han, Feng, Qiu, Wenjuan, Zhang, Huiwen, Ye, Jun, Liang, Lili, Wang, Yu, Ji, Wenjun, Zhan, Xia, Gu, Xuefan, Han, Lianshu

“…This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate…”
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Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays by 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

“…Long continuous stretches of homozygosity (LCSH) are associated with risk of recessive disorders. Though LCSH can be detected by SNP microarrays, additional…”
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Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism by 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

“…Gene variants have been reported to be associated with congenital hypothyroidism (CH), the purpose of this study was to analyze the mutation spectrum and…”
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Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China by Chen, Xueru, Qiu, Wenjuan, Ye, Jun, Han, Lianshu, Gu, Xuefan, Zhang, Huiwen

“…Lysosomal storage disorders (LSDs) are a group of >50 different types of inherited metabolic disorders that result from defects in the lysosome. The aim of…”
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Performance and Mechanism of Span Surfactants as Clean Flow Improvers for Crude Oil by Xuefan Gu, Gao, Long, Li, Yongfei, Chen, Shijun, Zhang, Jie, Du, Weichao, Qu, Chengtun, Chen, Gang

“…In this work, Span 60 and Span 80, two representatives of nonionic surfactants, were evaluated as clean flow improvers for crude oil. The results show that…”
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