Search Results - "Lu, ZhiKun"

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  1. 1

    Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study by Su, Ling, Sheng, Huiying, Li, Xiuzhen, Cai, Yanna, Mei, Huifen, Cheng, Jing, Li, Duan, Lu, Zhikun, Lin, Yunting, Chen, Xiaodan, Peng, Minzhi, Huang, Yonglan, Zhang, Wen, Liu, Li

    Published in Orphanet journal of rare diseases (15-05-2024)
    “…Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular…”
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    Journal Article
  2. 2

    Improved Performance of Sulfur-Driven Autotrophic Denitrification Process by Regulating Sulfur-Based Electron Donors by Xu, Jiang, Lu, Zhikun, Xu, Yifeng, Liang, Chuanzhou, Peng, Lai

    Published in Water (Basel) (01-03-2024)
    “…Sulfur-driven autotrophic denitrification (SADN) has demonstrated efficacy in nitrate (NO3−) removal from the aquatic environment. However, the insolubility of…”
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  3. 3

    Review of antibiotics treatment by advance oxidation processes by Akbari, Mohammad Zahir, Xu, Yifeng, Lu, Zhikun, Peng, Lai

    Published in Environmental advances (01-10-2021)
    “…•Antibiotics are non-biodegradable pharmaceuticals which can bio-accumulation in the environment.•AOPs are known as effective method for treatment of…”
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  4. 4

    Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children by Lu, Xinshuo, Li, Simin, Zhang, Wen, Lin, Yunting, Lu, Zhikun, Cai, Yanna, Su, Xueying, Shao, Yongxian, Liu, Zongcai, Sheng, Huiying, Huang, Yonglan, Liu, Li, Zeng, Chunhua

    Published in BMC gastroenterology (16-03-2022)
    “…Serum ceruloplasmin is one of the major diagnostic parameters for Wilson's disease (WD). Age and gender difference of serum ceruloplasmin remain controversy…”
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  5. 5

    Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review by Mao, Xiaojian, Liu, Sichi, Lin, Yunting, Chen, Zhen, Shao, Yongxian, Yu, Qiaoli, Liu, Haiying, Lu, Zhikun, Sheng, Huiyin, Lu, Xinshuo, Huang, Yonglan, Liu, Li, Zeng, Chunhua

    Published in BMC pediatrics (25-11-2019)
    “…Hypophosphatasia (HPP) is an inherited disorder of defective skeletal mineralization caused by mutations in the ALPL gene that encodes the Tissue Non-specific…”
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  6. 6

    Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review by Zeng, Chunhua, Lin, Yunting, Lu, Zhikun, Chen, Zhen, Jiang, Xiaoling, Mao, Xiaojian, Liu, Zongcai, Lu, Xinshuo, Zhang, Kangdi, Yu, Qiaoli, Wang, Xiaoya, Huang, Yonglan, Liu, Li

    Published in BMC musculoskeletal disorders (06-03-2020)
    “…Hajdu-Cheney syndrome (HCS) is a rare inherited skeletal disorder caused by pathogenic mutations in exon 34 of NOTCH2. Its highly variable phenotypes make…”
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  7. 7

    Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China by Zhang, Wen, Lin, Ruizhu, Lu, Zhikun, Sheng, Huiying, Xu, Yi, Li, Xiuzhen, Cheng, Jing, Cai, Yanna, Mao, Xiaojian, Liu, Li

    “…Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in , or . Mutational analysis of these…”
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  8. 8

    Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China by Zhang, Wen, Lin, Ruizhu, Lu, Zhikun, Sheng, Huiying, Xu, Yi, Li, Xiuzhen, Cheng, Jing, Cai, Yanna, Mao, Xiaojian, Liu, Li

    “…Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4…”
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  9. 9

    A two-stage degradation coupling photocatalysis to microalgae enhances the mineralization of enrofloxacin by Lu, Zhikun, Xu, Yifeng, Peng, Lai, Liang, Chuanzhou, Liu, Yiwen, Ni, Bing-Jie

    Published in Chemosphere (Oxford) (01-04-2022)
    “…The coupling of photocatalytic and algal processes has been used for the removal of widespread antibiotics. The removal capacities of the individual and the…”
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  10. 10

    Insight into integration of photocatalytic and microbial wastewater treatment technologies for recalcitrant organic pollutants: From sequential to simultaneous reactions by Lu, Zhikun, Xu, Yifeng, Akbari, Mohammad Zahir, Liang, Chuanzhou, Peng, Lai

    Published in Chemosphere (Oxford) (01-05-2022)
    “…The more and more stringent environmental standards for recalcitrant organic pollutants pushed forward the development of integration of photocatalytic and…”
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  11. 11

    How Contagious Was the Panic of 1907? New Evidence from Trust Company Stocks by Fohlin, Caroline, Lu, Zhikun

    Published in AEA papers and proceedings (01-05-2021)
    “…Using a new dataset of all NYC trust company stocks, we study the impact of the Panic of 1907 and the ensuing cash infusion by JP Morgan and the Treasury…”
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  12. 12

    Synthesis of ZnO@VC for enhancement of synergic photocatalytic degradation of SMX: Toxicity assessment, kinetics and transformation pathway determination by Akbari, Mohammad Zahir, Xu, Yifeng, Liang, Chuanzhou, Lu, Zhikun, Shen, Siyuan, Peng, Lai

    Published in Chemical engineering and processing (01-11-2023)
    “…•ZnO@VC was synthesized and characterized.•SMX was effectively degraded by ZnO@VC.•High catalyst dosage, SMX concentration, and some anions in SWW and TW…”
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  13. 13

    Accelerated Photocatalytic Degradation of Sulfamethoxazole and Cefixime: A Comprehensive Study of Biotoxicity, Degradation Kinetics and Pathway by Akbari, Mohammad Zahir, Xu, Yifeng, Liang, Chuanzhou, Lu, Zhikun, Shen, Siyuan, Peng, Lai

    Published in Water, air, and soil pollution (01-06-2024)
    “…This study aimed to accelerate photocatalytic treatment of sulfamethoxazole (SMX) and cefixime (CFM) and alleviate the toxicity of photocatalysis effluents to…”
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  14. 14

    The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant by Lu, Zhikun, Zhang, Wen, Mao, Xiaojian, Li, Duan, Chen, Xiaodan, Liu, Li, Lin, Yunting

    Published in Clinical genetics (01-02-2024)
    “…Marbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2…”
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  15. 15

    A novel homozygous splice‐site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report by Lin, Yunting, Zeng, Chunhua, Lu, Zhikun, Lin, Ruizhu, Liu, Li

    Published in Clinical genetics (01-07-2019)
    “…Here we describe the second case of primary microcephaly caused by a novel homozygous splice‐site variant at the NCAPD2 gene. The proband was born with…”
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  16. 16

    The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant by Lin, Yunting, Zhang, Wen, Li, Duan, Chen, Xiaodan, Lu, Zhikun, Li, Xiaojing, Li, Xiuzhen

    Published in Clinical genetics (01-09-2022)
    “…A. The family pedigree. B. Whole exome sequencing of the proband‐parent trio revealed c.611_612dupTG(p.M205*) variant of FITM2 gene as suspicious variant. C…”
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  17. 17

    Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study by Li, Simin, Lin, Yunting, Chen, Shehong, Zhang, Wen, Chen, Yu‐ming, Lu, Xinshuo, Shao, Yongxian, Lu, Zhikun, Sheng, Huiying, Guan, Zhihong, Zheng, Ruidan, Liang, Cuili, Chen, Yaoyong, Liu, Li, Zeng, Chunhua

    Published in Liver international (01-09-2024)
    “…Background and Aims Few studies have focused on the outcomes of Wilson's disease (WD) diagnosed before age of 5 years. This study aimed to summarize the…”
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  18. 18

    The EGFR‐P38 MAPK axis up‐regulates PD‐L1 through miR‐675‐5p and down‐regulates HLA‐ABC via hexokinase‐2 in hepatocellular carcinoma cells by Liu, Zongcai, Ning, Fen, Cai, Yanna, Sheng, Huiying, Zheng, Ruidan, Yin, Xi, Lu, Zhikun, Su, Ling, Chen, Xiaodan, Zeng, Chunhua, Wang, Haifang, Liu, Li

    Published in Cancer communications (London, England) (01-01-2021)
    “…Background Immunotherapy has been shown to be a promising strategy against human cancers. A better understanding of the immune regulation in hepatocellular…”
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  19. 19

    Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease by Su, Ling, Lu, Zhikun, Li, Fatao, Shao, Yongxian, Sheng, Huiying, Cai, Yanna, Liu, Li

    Published in Metabolic brain disease (01-06-2017)
    “…Maple syrup urine disease (MSUD) is a rare autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs)…”
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  20. 20

    Clinical features and mutational analysis in 114 young children with Wilson disease from South China by Li, Xiuzhen, Lu, Zhikun, Lin, Yunting, Lu, Xinshuo, Xu, Yi, Cheng, Jing, Shao, Yongxian, Su, Xueying, Liu, Zongcai, Sheng, Huiying, Cai, Yanna, Li, Taolin, Zhou, Zhizi, Tan, Jingwen, Liu, Hongsheng, Huang, Yonglan, Liu, Li, Zeng, Chunhua

    “…Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene. Clinical features and mutational analysis of Chinese children…”
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