Works matching AU Gu, Xuefan

Results: 97

Assessment and Application of Acylcarnitines Summations as Auxiliary Quantization Indicator for Primary Carnitine Deficiency.

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 2, p. 47, doi. 10.3390/ijns11020047

By:

Zhi, Haijuan;
Chang, Siyu;
Chen, Ting;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients.

Published in:

Frontiers in Genetics, 2021, v. 11, p. N.PAG, doi. 10.3389/fgene.2021.577046

By:

Gong, Zhuwen;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Ye, Jun;
Wang, Yu;
Ji, Wenjun;
Chen, Ting;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Whole Genome Low-Coverage Sequencing Concurrently Detecting Copy Number Variations and Their Underlying Complex Chromosomal Rearrangements by Systematic Breakpoint Mapping in Intellectual Deficiency/Developmental Delay Patients.

Published in:

Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00616

By:

Xiao, Bing;
Ye, Xiantao;
Wang, Lili;
Fan, Yanjie;
Gu, Xuefan;
Ji, Xing;
Sun, Yu;
Yu, Yongguo

Publication type:

Article

Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches.

Published in:

Frontiers in Genetics, 2020, p. 1, doi. 10.3389/fgene.2020.00496

By:

Xiao, Bing;
Qiu, Wenjuan;
Ye, Jun;
Zhang, Huiwen;
Zhu, Hong;
Wang, Lei;
Liang, Lili;
Xu, Feng;
Chen, Ting;
Xu, Yan;
Yu, Yongguo;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Comparative evaluation of short-term biomarker response to treatment for growth hormone deficiency in Chinese children with growth hormone deficiency born small for or appropriate for gestational age: a randomized phase IV open-label study.

Published in:

Therapeutic Advances in Endocrinology & Metabolism, 2013, v. 4, n. 2, p. 41, doi. 10.1177/2042018813484051

By:

Lu, Wenli;
Shen, Shuixian;
Luo, Xiaoping;
Gong, Chunxiu;
Gu, Xuefan;
Li, Yun;
Du, Minlian;
Jin, Runming;
Zhou, Queena;
Wang, Wei

Publication type:

Article

Association of change on insulin-like growth factor (IGF)-i and IGF-binding protein 3 with genetic markers after a month of growth hormone (GH) therapy on Chinese children born with GH deficiency.

Published in:

2013

By:

Wei Wang;
Shuixian Shen;
Xiaoping Luo;
Chunxiu Gong;
Xuefan Gu;
Yun Li;
Minlian Minlian;
Minlian Jin;
Bin Wu

Publication type:

Abstract

Recurring G12S Mutation of HRAS in a Chinese Child with Costello Syndrome with High Alkaline Phosphatase Level.

Published in:

Biochemical Genetics, 2009, v. 47, n. 11/12, p. 868, doi. 10.1007/s10528-009-9286-7

By:

Huiwen Zhang;
Jun Ye;
Xuefan Gu

Publication type:

Article

Synthesis and Interface Activity of a Series of Dicarboxylic Cationic Surfactants and a Structure–Efficiency Relationship Study.

Published in:

Journal of Surfactants & Detergents, 2019, v. 22, n. 4, p. 691, doi. 10.1002/jsde.12264

By:

Chen, Gang;
Bai, Yun;
Liu, Qiaona;
Zhang, Jie;
Gu, Xuefan;
Li, Hong;
Qu, Chengtun;
Zhang, Yongming

Publication type:

Article

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

Published in:

2020

By:

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

Publication type:

journal article

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Published in:

2020

By:

Dai, Mengyao;
Xiao, Bing;
Zhang, Huiwen;
Ye, Jun;
Qiu, Wenjuan;
Zhu, Hong;
Wang, Lei;
Liang, Lili;
Zhan, Xia;
Ji, Wenjun;
Wang, Yu;
Yu, Yongguo;
Gu, Xuefan;
Han, Lianshu

Publication type:

journal article

Effects of phenylalanine on the survival and neurite outgrowth of rat cortical neurons in primary cultures: possible involvement of brain-derived neurotrophic factor.

Published in:

Molecular & Cellular Biochemistry, 2010, v. 339, n. 1/2, p. 1, doi. 10.1007/s11010-009-0364-2

By:

Duan Li;
Xuefan Gu;
Lihua Lu;
Lili Liang

Publication type:

Article

Identification of RUNX2 variants associated with cleidocranial dysplasia.

Published in:

Hereditas, 2019, v. 156, n. 1, p. N.PAG, doi. 10.1186/s41065-019-0107-7

By:

Gao, Xueren;
Li, Kunxia;
Fan, Yanjie;
Sun, Yu;
Luo, Xiaomei;
Wang, Lili;
Liu, Huili;
Gong, Zhuwen;
Wang, Jianguo;
Wang, Yu;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 10, p. 563, doi. 10.1038/jhg.2014.73

By:

Wang, Yu;
Zhang, Huiwen;
Ye, Jun;
Han, Lianshu;
Gu, Xuefan

Publication type:

Article

The Impact of Growth Hormone Treatment on COVID-19 Susceptibility and Severity in Children with Short Stature: A Survey Study with Mendelian Randomization Analysis.

Published in:

Infection & Drug Resistance, 2024, v. 17, p. 5675, doi. 10.2147/IDR.S483477

By:

Qiu, Wenjuan;
Wang, Ruifang;
Liang, Lili;
Sun, Yuning;
Zhou, Rong;
Wang, Xiaoli;
Sun, Wen;
Gu, Xuefan

Publication type:

Article

Rapid detection of glycogen storage disease type Ia by DNA microarray.

Published in:

Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 9, p. 1229, doi. 10.1515/CCLM.2010.244

By:

Shanshan Xu;
Shengying Qin;
Xuefan Gu;
Wenjuan Qiu;
Jun Ye;
Lianshu Han;
Lin He

Publication type:

Article

Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type II in China: A retrospective, observational study.

Published in:

Clinical Genetics, 2023, v. 103, n. 6, p. 655, doi. 10.1111/cge.14329

By:

Zhong, Lin;
Gao, Xiaolan;
Wang, Yu;
Qiu, Wenjuan;
Han, Lianshu;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

Improving variant prioritization in exome analysis by entropy‐weighted ensemble of multiple tools.

Published in:

Clinical Genetics, 2023, v. 103, n. 2, p. 190, doi. 10.1111/cge.14257

By:

Fan, Yanjie;
Zhou, Ying;
Liu, Huili;
Luo, Xiaomei;
Xu, Ting;
Sun, Yu;
Yang, Tingting;
Chen, Linlin;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions.

Published in:

BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0368-4

By:

Fan, Yanjie;
Wu, Yanming;
Wang, Lili;
Wang, Yu;
Gong, Zhuwen;
Qiu, Wenjuan;
Wang, Jingmin;
Zhang, Huiwen;
Ji, Xing;
Ye, Jun;
Han, Lianshu;
Jin, Xingming;
Shen, Yongnian;
Li, Fei;
Xiao, Bing;
Liang, Lili;
Zhang, Xia;
Liu, Xiaomin;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02890-4

By:

Ding, Si;
Ling, Shiying;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Chen, Ting;
Zhan, Xia;
Xu, Feng;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02656-y

By:

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

Publication type:

Article

Crystal structure of catena-poly[dichlorido-(μ2-3-(2-pyridyl)-4-(4-pyridyl)-5-(3-pyridyl)-1,2,4-triazole-κ²N:N′)] copper(II), C17H12N6Cl2Cu.

Published in:

Zeitschrift für Kristallographie / New Crystal Structures, 2019, v. 234, n. 3, p. 481, doi. 10.1515/ncrs-2018-0483

By:

Lili Zhang;
Xuefan Gu;
Ming Xue;
Chengtun Qu;
Yun Ma;
Gang Chen

Publication type:

Article

99 % yield biodiesel production from rapeseed oil using benzyl bromide-CaO catalyst.

Published in:

Environmental Chemistry Letters, 2013, v. 11, n. 2, p. 203, doi. 10.1007/s10311-013-0403-9

By:

Tang, Ying;
Gu, Xuefan;
Chen, Gang

Publication type:

Article

Examining the blood amino acid status in pretherapeutic patients with hyperphenylalaninemia.

Published in:

2020

By:

Liang, Lili;
Ye, Jun;
Han, Lianshu;
Qiu, Wenjuan;
Zhang, Huiwen;
Yu, Yongguo;
Zhu, Tianwen;
Xu, Feng;
Zhan, Xia;
Bao, Peizhong;
Ji, Wenjun;
Gu, Xuefan

Publication type:

journal article

Spectrum Analysis of Common Inherited Metabolic Diseases in Chinese Patients Screened and Diagnosed by Tandem Mass Spectrometry.

Published in:

Journal of Clinical Laboratory Analysis, 2015, v. 29, n. 2, p. 162, doi. 10.1002/jcla.21745

By:

Han, Lianshu;
Han, Feng;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Gao, Xiaolan;
Wang, Yu;
Ji, Wenjun;
Gu, Xuefan

Publication type:

Article

A Large Deletion of PROP1 Gene in Patients with Combined Pituitary Hormone Deficiency from Two Unrelated Chinese Pedigrees.

Published in:

Hormone Research in Paediatrics, 2010, v. 74, n. 2, p. 98, doi. 10.1159/000313375

By:

Zhang, Huiwen;
Wang, Yi;
Han, Lianshu;
Gu, Xuefan;
Shi, Dingping

Publication type:

Article

The Expression and Phosphorylation of Acid Sensing Ion Channel 1a in the Brain of a Mouse Model of Phenylketonuria.

Published in:

International Journal of Neuroscience, 2011, v. 121, n. 7, p. 399, doi. 10.3109/00207454.2011.568655

By:

Liang, Lili;
Gu, Xuefan;
Li, Duan;
Lu, Lihua

Publication type:

Article

Clinical outcomes of patients with mut-type methylmalonic acidemia identified through expanded newborn screening in China.

Published in:

Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00646-0

By:

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;
Wang, Yu;
Chen, Ting;
Xu, Feng;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.898860

By:

Ding, Si;
Liang, Lili;
Qiu, Wenjuan;
Zhang, Huiwen;
Xiao, Bing;
Dong, Liping;
Ji, Wenjun;
Xu, Feng;
Gong, Zhuwen;
Gu, Xuefan;
Wang, Lei;
Han, Lianshu

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.805599

By:

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

Publication type:

Article

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.702374

By:

E., Huishu;
Liang, Lili;
Zhang, Huiwen;
Qiu, Wenjuan;
Ye, Jun;
Xu, Feng;
Gong, Zhuwen;
Gu, Xuefan;
Han, Lianshu

Publication type:

Article

Modified calcium oxide as stable solid base catalyst for Aldol condensation reaction.

Published in:

Journal of Chemical Sciences, 2013, v. 125, n. 2, p. 313, doi. 10.1007/s12039-013-0362-5

By:

TANG, YING;
XU, JINGFANG;
GU, XUEFAN

Publication type:

Article

Rapidly rising incidence of childhood type 1 diabetes in Chinese population: epidemiology in Shanghai during 1997-2011.

Published in:

Acta Diabetologica, 2014, v. 51, n. 6, p. 947, doi. 10.1007/s00592-014-0590-2

By:

Zhao, Zhuhui;
Sun, Chengjun;
Wang, Chunfang;
Li, Pin;
Wang, Wei;
Ye, Jun;
Gu, Xuefan;
Wang, Xiaodong;
Shen, Shuixian;
Zhi, Dijing;
Lu, Zhong;
Ye, Rong;
Cheng, Ruoqian;
Xi, Li;
Li, Xiaojing;
Zheng, Zhangqian;
Zhang, Miaoying;
Luo, Feihong

Publication type:

Article

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

Published in:

Frontiers in Genetics, 2022, v. 13, p. 01, doi. 10.3389/fgene.2022.1062715

By:

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

Publication type:

Article

Homozygous LMNA mutation R527C in atypical Hutchinson–Gilford progeria syndrome: evidence for autosomal recessive inheritance.

Published in:

Acta Paediatrica, 2009, v. 98, n. 8, p. 1365, doi. 10.1111/j.1651-2227.2009.01324.x

By:

Liang, Lili;
Zhang, Huiwen;
Gu, Xuefan

Publication type:

Article

Research on microstructure and rheological properties of recyclable NaOA/Na3PO4 viscoelastic micelle fracturing fluid.

Published in:

Oil Drilling & Production Technology / Shiyou Zuancai Gongyi, 2014, v. 36, n. 6, p. 60, doi. 10.13639/j.odpt.2014.06.015

By:

GU Xuefan;
XU Jingfang;
LI Kai;
LIU Huiqiang;
YAN Yongli

Publication type:

Article

Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients.

Published in:

2014

By:

Zhang, Huiwen;
Wang, Yu;
Lin, Na;
Yang, Rui;
Qiu, Wenjuan;
Han, Lianshu;
Ye, Jun;
Gu, Xuefan

Publication type:

journal article

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Published in:

Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-15

By:

Huiwen Zhang;
Yu Wang;
Zhuwen Gong;
Xiaoyan Li;
Wenjuan Qiu;
Lianshu Han;
Jun Ye;
Xuefan Gu

Publication type:

Article

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Published in:

2013

By:

Zhang, Huiwen;
Wang, Yu;
Gong, Zhuwen;
Li, Xiaoyan;
Qiu, Wenjuan;
Han, Lianshu;
Ye, Jun;
Gu, Xuefan

Publication type:

journal article

X-ray induced photodynamic therapy (PDT) with a mitochondria-targeted liposome delivery system.

Published in:

Journal of Nanobiotechnology, 2020, v. 18, n. 1, p. 1, doi. 10.1186/s12951-020-00644-z

By:

Gu, Xuefan;
Shen, Chao;
Li, Hua;
Goldys, Ewa M.;
Deng, Wei

Publication type:

Article

Investigation of GALNS variants and genotype–phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 593, doi. 10.1002/jimd.12491

By:

Yi, Mengni;
Wang, Yu;
Gao, Xiaolan;
Han, Lianshu;
Qiu, Wenjuan;
Gu, Xuefan;
Maegawa, Gustavo H. B.;
Zhang, Huiwen

Publication type:

Article

Demographics, diagnosis and treatment of 256 patients with tetrahydrobiopterin deficiency in mainland China: results of a retrospective, multicentre study.

Published in:

Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 893, doi. 10.1007/s10545-012-9550-6

By:

Ye, Jun;
Yang, Yanling;
Yu, Weimin;
Zou, Hui;
Jiang, Jianhui;
Yang, Rulai;
Shang, Sunny;
Gu, Xuefan

Publication type:

Article

Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.

Published in:

Journal of Inherited Metabolic Disease, 2010, v. 33, p. 435, doi. 10.1007/s10545-010-9217-0

By:

Wang, Fei;
Han, Lianshu;
Yang, Yanling;
Gu, Xuefan;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Zhang, Yafen;
Gao, XiaoLan;
Wang, Yu

Publication type:

Article

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Published in:

2020

By:

Han, Lianshu;
Chen, Chao;
Guo, Fengyu;
Ye, Jun;
Peng, Zhiyu;
Qiu, Wenjuan;
Wang, Yaoshen;
Li, Wei;
Zhang, Huiwen;
Liang, Lili;
Wang, Yu;
Wang, Huanhuan;
Ji, Xing;
Sun, Jun;
Gu, Xuefan

Publication type:

journal article

Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.

Published in:

2019

By:

Ji, Xing;
Wang, Huanhuan;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Liang, Lili;
Xiao, Bing;
Dai, Mengyao;
Xu, Yan;
Chen, Ting;
Xu, Feng;
Chen, Yingwei;
Ye, Weiping;
Gu, Xuefan;
Wang, Lei;
Han, Lianshu

Publication type:

journal article

Synthesis and Evaluation of Hydroxymethyl Tetramides as Flow Improvers for Crude Oil.

Published in:

Journal of the Chemical Society of Pakistan, 2020, v. 42, n. 4, p. 488, doi. 10.52568/000658

By:

Gu, Xuefan;
Wang, Peng;
Guo, Zhen;
Du, Weichao;
Dong, Sanbao

Publication type:

Article

MeOH Enhanced Aquathermolysis of Heavy Oil Catalyzed by Hydroxamic Acid-Ni(II)Complex at Low Temperature.

Published in:

Journal of the Chemical Society of Pakistan, 2018, v. 40, n. 3, p. 487

By:

Zhe Shen;
Zhiyu Huang;
Yongfei Li;
Xuefan Gu;
Bianqin Li;
Chentun Qu;
Hua Song

Publication type:

Article

Synthesis and Application of a Benzotriazole Mannich Base as Effective Corrosion Inhibitor for N80 Steel in High Concentrated HCl.

Published in:

Journal of the Chemical Society of Pakistan, 2016, v. 38, n. 4, p. 675

By:

Ya Wu;
Hongjiang Yu;
Shijun Chen;
Jiao Yan;
Xuefan Gu;
Yan Li;
Gang Chen

Publication type:

Article

Direct Henry reactions with modified calcium oxide as solid catalyst.

Published in:

Research on Chemical Intermediates, 2013, v. 39, n. 8, p. 3715, doi. 10.1007/s11164-012-0875-4

By:

Tang, Ying;
Gu, Xuefan;
Meng, Mei;
Xu, Jingfang

Publication type:

Article

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study.

Published in:

Clinical Chemistry, 2020, v. 66, n. 3, p. 455, doi. 10.1093/clinchem/hvz033

By:

Yu Sun;
Xiantao Ye;
Yanjie Fan;
Lili Wang;
Xiaomei Luo;
Huili Liu;
Xueren Gao;
Zhuwen Gong;
Yu Wang;
Wenjuan Qiu;
Huiwen Zhang;
Lianshu Han;
Lili Liang;
Hui Ye;
Bing Xiao;
Xuefan Gu;
Yongguo Yu

Publication type:

Article

Evaluation and application of poly(ethylene glycol) as lubricant in water‐based drilling fluid for horizontal well in Sulige Gas Field.

Published in:

Polymer International, 2021, v. 70, n. 1, p. 83, doi. 10.1002/pi.6092

By:

Liu, Xiongxiong;
Gao, Long;
Wang, Qingchen;
Gu, Xuefan;
Du, Weichao;
Zhang, Jie;
Gang, Chen

Publication type:

Article