Works by 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

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

Diagnosis and follow‐up of glycogen storage disease (GSD) type VI from the largest GSD center in China.

Published in:

Human Mutation, 2022, v. 43, n. 5, p. 557, doi. 10.1002/humu.24345

By:

Luo, Xiaomei;
Duan, Ying;
Fang, Di;
Sun, Yu;
Xiao, Bing;
Zhang, Huiwen;
Han, Lianshu;
Liang, Lili;
Gong, Zhuwen;
Gu, Xuefan;
Yu, Yongguo;
Qiu, Wenjuan

Publication type:

Article

Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B.

Published in:

Human Mutation, 2021, v. 42, n. 5, p. 614, doi. 10.1002/humu.24192

By:

Hu, Jiayue;
Maegawa, Gustavo H.B.;
Zhan, Xia;
Gao, Xiaolan;
Wang, Yu;
Xu, Feng;
Qiu, Wenjuan;
Han, Lianshu;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

De Novo ARID1B mutations cause growth delay associated with aberrant Wnt/β–catenin signaling.

Published in:

Human Mutation, 2020, v. 41, n. 5, p. 1012, doi. 10.1002/humu.23990

By:

Liu, Xiaomin;
Hu, Guorui;
Ye, Jun;
Ye, Bin;
Shen, Nan;
Tao, Yue;
Zhang, Xia;
Fan, Yanjie;
Liu, Huili;
Zhang, Zhigang;
Fang, Danfeng;
Gu, Xuefan;
Mo, Xi;
Yu, Yongguo

Publication type:

Article

Newborn Screening for 6 Lysosomal Storage Disorders in China.

Published in:

JAMA Network Open, 2024, v. 7, n. 5, p. e2410754, doi. 10.1001/jamanetworkopen.2024.10754

By:

Chang, Siyu;
Zhan, Xia;
Liu, Yuchao;
Song, Huanlei;
Gong, Zizhen;
Han, Lianshu;
Maegawa, Gustavo H. B.;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

Fast Label‐Free Metabolic Profile Recognition Identifies Phenylketonuria and Subtypes.

Published in:

Advanced Science, 2024, v. 11, n. 15, p. 1, doi. 10.1002/advs.202305701

By:

Su, Haiyang;
Zhang, Huiwen;
Wu, Jiao;
Huang, Lin;
Zhang, Mengji;
Xu, Wei;
Cao, Jing;
Liu, Wanshan;
Liu, Ning;
Jiang, Hongwei;
Gu, Xuefan;
Qian, Kun

Publication type:

Article

Preparation and Performance Evaluation of Small-Molecule Ammonium as a Shale Hydration Inhibitor.

Published in:

Minerals (2075-163X), 2024, v. 14, n. 11, p. 1117, doi. 10.3390/min14111117

By:

Wang, Quande;
He, Huifeng;
Zhao, Yarui;
Rui, Jing;
Jiang, Ruichen;
Slaný, Michal;
Chen, Gang;
Gu, Xuefan

Publication type:

Article

Copy number variations in 119 Chinese children with idiopathic short stature identified by the custom genome-wide microarray.

Published in:

Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0225-0

By:

Guorui Hu;
Yanjie Fan;
Lili Wang;
Ru-en Yao;
Xiaodong Huang;
Yiping Shen;
Yongguo Yu;
Xuefan Gu

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

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Published in:

BMC Medical Genomics, 2017, v. 10, p. 1, doi. 10.1186/s12920-017-0298-6

By:

Shanshan Xu;
Yanjie Fan;
Yu Sun;
Lili Wang;
Xuefan Gu;
Yongguo Yu

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

Synthesis of New Hydrazone Compounds from Natural Grease and Investigation as Flow Improver for Crude Oil.

Published in:

Petroleum Chemistry, 2023, v. 63, n. 5, p. 553, doi. 10.1134/S0965544123040060

By:

Zhang, Shu;
Wang, Longyu;
Cao, Pengzhang;
Gu, Xuefan;
Zhang, Huani;
Chen, Gang

Publication type:

Article

Performance and Mechanism of Span Surfactants as Clean Flow Improvers for Crude Oil.

Published in:

Petroleum Chemistry, 2020, v. 60, n. 1, p. 140, doi. 10.1134/S0965544120010156

By:

Xuefan Gu;
Gao, Long;
Li, Yongfei;
Chen, Shijun;
Zhang, Jie;
Du, Weichao;
Qu, Chengtun;
Chen, Gang

Publication type:

Article

Synthesis and Investigation of a Spiro Diborate as a Clean Viscosity-Reducer and Pour Point Depressor for Crude Oil.

Published in:

Petroleum Chemistry, 2019, v. 59, n. 6, p. 570, doi. 10.1134/S0965544119060161

By:

Xuefan Gu;
Li, Yongfei;
Yan, Jiao;
Zhang, Jie;
Wu, Ya;
Wang, Manxue;
Zhao, Jinsheng;
Chen, Gang

Publication type:

Article

Preparation and Performance of Vegetable Oils Fatty Acids Hydroxylmethyl Triamides as Crude Oil Flow Improvers.

Published in:

Petroleum Chemistry, 2018, v. 58, n. 12, p. 1070, doi. 10.1134/S0965544118120046

By:

Jie Zhang;
Guo, Zhen;
Du, Weichao;
Gu, Xuefan;
Wang, Manxue;
Zhang, Zhifang;
Ma, Yun;
Chen, Gang

Publication type:

Article

Zn(II) Complex Catalyzed Coupling Aquathermolysis of Water-Heavy Oil-Methanol at Low Temperature.

Published in:

Petroleum Chemistry, 2018, v. 58, n. 3, p. 197, doi. 10.1134/S0965544118030039

By:

Chen, Gang;
Yuan, Weihua;
Yan, Jiao;
Meng, Mei;
Guo, Zheng;
Gu, Xuefan;
Zhang, Jie;
Qu, Chengtun;
Song, Hua;
Jeje, Ayodeji

Publication type:

Article

Synthesis of pour point depressant for heavy oil from waste organic glass.

Published in:

Petroleum Chemistry, 2018, v. 58, n. 1, p. 85, doi. 10.1134/S0965544118010085

By:

Chen, Gang;
Yuan, Weihua;
Bai, Yun;
Zhao, Wei;
Zhang, Jie;
Wu, Ya;
Gu, Xuefan;
Chen, Shijun;
Yu, Hongjiang

Publication type:

Article

Characteristics of Pompe disease in China: a report from the Pompe registry.

Published in:

2019

By:

Zhao, Yuying;
Wang, Zhaoxia;
Lu, Jiahong;
Gu, Xuefan;
Huang, Yonglan;
Qiu, Zhengqing;
Wei, Yanping;
Yan, Chuanzhu

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

Impaired Glucose Tolerance in a Mouse Model of Sidt2 Deficiency.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066139

By:

Gao, Jialin;
Gu, Xuefan;
Mahuran, Don J.;
Wang, Zhugang;
Zhang, Huiwen

Publication type:

Article

Elevated Bile Acids in Newborns with Biliary Atresia (BA).

Published in:

PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0049270

By:

Kejun Zhou;
Na Lin;
Yongtao Xiao;
Yang Wang;
Jie Wen;
Gang-Ming Zou;
XueFan Gu;
Wei Cai

Publication type:

Article

Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing.

Published in:

PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022951

By:

Huiwen Zhang;
Jing Li;
Xinshun Zhang;
Yu Wang;
Wenjuan Qiu;
Jun Ye;
Lianshu Han;
Xiaolan Gao;
Xuefan Gu

Publication type:

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

A Phase 2 Study of PEGylated Recombinant Human Growth Hormone for 52 Weeks in Short Children Born Small for Gestational Age in China.

Published in:

Clinical Endocrinology, 2025, v. 102, n. 2, p. 136, doi. 10.1111/cen.15156

By:

Luo, Xiaoping;
Hou, Ling;
Zhong, Yan;
Zhao, Sha;
Chen, Xiaobo;
Dong, Qian;
Du, Hongwei;
Lu, Honghua;
Yang, Yu;
Wu, Xian;
Luo, Feihong;
Chen, Ruoqian;
Xu, Zhuangjian;
Ma, Yaping;
Song, Wenhui;
Feng, Mei;
Gu, Xuefan;
Qiu, Wenjuan

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

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

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

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

Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 510, doi. 10.1002/ajmg.a.38025

By:

Sun, Yu;
Hu, Guorui;
Liu, Huili;
Zhang, Xia;
Huang, Zhuo;
Yan, Hui;
Wang, Lili;
Fan, Yanjie;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1347, doi. 10.1002/ajmg.a.37590

By:

Liu, Huan;
Tan, Dongqiong;
Han, Lianshu;
Ye, Jun;
Qiu, Wenjuan;
Gu, Xuefan;
Zhang, Huiwen

Publication type:

Article

Exonic deletions of AUTS2 in Chinese patients with developmental delay and intellectual disability.

Published in:

American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 515, doi. 10.1002/ajmg.a.37454

By:

Fan, Yanjie;
Qiu, Wenjuan;
Wang, Lili;
Gu, Xuefan;
Yu, Yongguo

Publication type:

Article

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2300, doi. 10.1002/ajmg.a.37147

By:

Han, Lianshu;
Wu, Shengnan;
Ye, Jun;
Qiu, Wenjuan;
Zhang, Huiwen;
Gao, Xiaolan;
Wang, Yu;
Gong, Zhuwen;
Jin, Jing;
Gu, Xuefan

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

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

Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.

Published in:

BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01010-4

By:

Luo, Xiaomei;
Hu, Jiacheng;
Gao, Xueren;
Fan, Yanjie;
Sun, Yu;
Gu, Xuefan;
Qiu, Wenjuan

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

Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.

Published in:

Scientific Reports, 2017, p. 44536, doi. 10.1038/srep44536

By:

Fan, Yanjie;
Zhang, Xia;
Wang, Lili;
Wang, Ruifang;
Huang, Zhuo;
Sun, Yu;
Yao, Ruen;
Huang, Xiaodong;
Ye, Jun;
Han, Lianshu;
Qiu, Wenjuan;
Zhang, Huiwen;
Liang, Lili;
Gu, Xuefan;
Yu, Yongguo

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

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

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

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

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

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