Search Results - "Lu, ZhiKun"
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Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study
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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Improved Performance of Sulfur-Driven Autotrophic Denitrification Process by Regulating Sulfur-Based Electron Donors
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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Review of antibiotics treatment by advance oxidation processes
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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Assessment of the diagnostic value of serum ceruloplasmin for Wilson's disease in children
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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Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review
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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Distinct severity of phenotype in Hajdu-Cheney syndrome: a case report and literature review
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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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
Published in Pediatric gastroenterology, hepatology & nutrition (01-11-2020)“…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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Phenotypic and Molecular Characteristics of Children with Progressive Familial Intrahepatic Cholestasis in South China
Published in Pediatric gastroenterology, hepatology & nutrition (2020)“…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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A two-stage degradation coupling photocatalysis to microalgae enhances the mineralization of enrofloxacin
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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Insight into integration of photocatalytic and microbial wastewater treatment technologies for recalcitrant organic pollutants: From sequential to simultaneous reactions
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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How Contagious Was the Panic of 1907? New Evidence from Trust Company Stocks
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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Synthesis of ZnO@VC for enhancement of synergic photocatalytic degradation of SMX: Toxicity assessment, kinetics and transformation pathway determination
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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Accelerated Photocatalytic Degradation of Sulfamethoxazole and Cefixime: A Comprehensive Study of Biotoxicity, Degradation Kinetics and Pathway
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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The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant
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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A novel homozygous splice‐site variant of NCAPD2 gene identified in two siblings with primary microcephaly: The second case report
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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The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant
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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Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study
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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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
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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Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease
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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Clinical features and mutational analysis in 114 young children with Wilson disease from South China
Published in American journal of medical genetics. Part A (01-08-2019)“…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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