• 基本信息
    导师姓名: 张惠文 学科代码: 100202
    性别: 学科名称: 儿科学
    培养单位: 附属新华医院 三级学科
    导师类型: 博士生导师 专业领域名称: 儿科学 专业学位
    联系方式: 上海交通大学医学院附属新华医院 科教大楼802 专业领域代码: 105102
    邮编: 200082 邮箱地址: zhanghuiwen@xinhuamed.com.cn
  • 研究方向 (点击浏览详细信息)
  • 社会任职
     
    《中华儿科杂志》通讯编委 中华医学会儿科学分会内分泌遗传代谢学组委员 上海医学会儿科学分会小儿内分泌遗传代谢病学组副组长
  • 科研项目
    项目编号项目名称课题来源起止年月批准经费承担职责
    202240361常见溶酶体贮积病生物标记物建立和运用上海市卫健委 2023-01~2025-12 10万元  课题负责人
    20ZR1446300NDUFAF7基因突变导致婴儿型线粒体病的功能学研究上海市科委 2020-07~2023-06 20万元  课题负责人
    191409041001. 基于中国人SMPD1基因常见突变的尼曼匹克病A/B型大鼠模型建立上海市科委 2019-04~2022-03 30万元  课题负责人
    81570516探讨溶酶体膜蛋白Sidt2通过自噬影响肝脏脂肪代谢的机制国家自然科学基金 2016-01~2019-12 57万元  课题负责人
  • 学术论文
    作者论文标题期刊名出版年卷期页码
    Xia Zhan, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Jun Guo, Siyu Chang, Yu Wang,  Steroid profile in dried blood spots by liquid chromatography tandem mass spectrometry: Application to newborn screening for congenital adrenal hyperplasia in China.  Steroids.  2022  2022.Sep;185:109056. 
    Shiqian Han,, Mengni Yi, Xiaoqing Liu, Gustavo H. B. Maegawa, Yunding Zou, Qijun Wang, Dianqing Wu, Zhijia Ye.  Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1  Frontiers n Pharmacology.   2021 
    Wenjun Jiang , Nan Jia , Chaowan Guo, Juan Wen, Lingqian Wu, Tomoo Ogi,  Predominant cellular mitochondrial dysfunction in the TOP3A gene-caused Bloom syndrome-like disorder  Biochim Biophys Acta Mol Basis Dis.  2021  1867(6):166106 
    Mengni Yi, Yu Wang, Xiaolan Gao, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Gustavo H B Maegawa,  Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.  JOURNAL OF INHERITED METABOLIC DISEASE.  2021  2022;45(3):593-604. 
    Hu J, Maegawa GHB, Zhan X, Gao X, Wang Y, Xu F, Qiu W, Han L, Gu X,  Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.  Hum Mutat.  2021  42(5):614-625. 
    Jiang W, Yi M1,, Zhang H.   Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease. 2020.  J Hum Genet.  2020  65(3):345-349. 
    Wang Yu, Jun Ye, Wenjuan Qiu, Lianshu Han, Xiaolan Gao, Lili Liang, Xuefan Gu,  Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II  Acta Pharmacologica Sinica  2019  40(2):279-287. 
    Zhao S, Zhan X, Wang Y, Ye J, Han L, Qiu W, Gao X, Gu X,  Large-scale Study of Clinical and Biochemical Characteristics of Chinese Patients Diagnosed with Krabbe Disease.   Clin Genet.  2018  93(2):248-254. 
    Liu Huan, Jiang Wenjun,Xueru Chen, Guoying Chang, Lei Zhao, Xihua Li,  Skeletal muscle-specific Sidt2 knockout in mice induced muscular dystrophy-like phenotype.  Metabolism clinical and Experimental.   2018  85(8):259-270 
    Kang L, Wang Y, Gao X, Qiu W, Ye J, Han L, Gu X,  Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. Genotypes and phenotypes in type 2 Gaucher disease  Brain Dev.  2018  40(10):876-883. 
    Kang L, Zhan X, Ye J, Han L, Qiu W, Gu X,  A rare form of Gaucher disease resulting from saposin C deficiency.   Blood Cells Mol Dis.  2018  68(2):60-65.  
    Chen X, Gu X,  Sidt2 regulates hepatocellular lipid metabolism through autophagy.  J Lipid Res.  2018  59(3):404-415.  
    Kang L, Zhan X, Gu X,  Successful newborn screening for Gaucher disease using fluorometric assay in China.  J Hum Genet.   2017  62(8):763-768. 
    Chang G, Yang R, Cao Y, Nie A, Gu X,  Sidt2 is involved in the NAADP-mediated release of calcium from insulin secretory granules  J Mol Endocrinol.   2016  56(3):249-259 
    Chen X, Qiu W, Ye J, Han L, Gu X,  Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China  J Hum Genet.   2016  61(4):345-349 
    Liu H, Tan D, Han L, Ye J, Qiu W, Gu X,  A new case of malonyl-CoA decarboxylase deficiency with mild clinical features.  Am J Med Genet A.  2016  170(5):1347-1351  
    Ding X, Chen Y, Han L, Qiu W, Gu X,  Apoptosis related protein 3 is a lysosomal membrane protein  Biochem Biophys Res Commun  2015  2015.15;460(4):915-22. 
    , Yang R, Wang Y, Ye J, Han L, Qiu W, Gu X  A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing  J Hum Genet  2015  60(12):769-776 
    Wang Y,, Ye J, Han L, Gu XH . .   Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia  Journal of human Genet  2014  2014.59(10):563-7.  
    , Wang Y, Lin N, Yang R, Qiu W, Han L, Ye J, Gu X.  Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients  Orphanet J Rare Dis  2014  9(1):82- 
    , Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X  Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease  Orphanet J Rare Dis.  2013  8(1):15- 
    Jialin Gao, Xuefan Gu, Don J Mahuran, Zhugang Wang,  Impaired glucose tolerance in a mouse model of Sidt2 deficiency.  PLoS ONE  2013  8(6):66139-1