Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

被引：0
|
作者：
Jinfu Zhou
Guilin Li
Lin Deng
Peiran Zhao
Yinglin Zeng
Xiaolong Qiu
Jinying Luo
Liangpu Xu
机构：
[1] Fujian Medical University,Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics
[2] Fujian Medical University,Department of Preventive Medicine, School of Public Health
[3] Fujian Medical University,Obstetrics and Gynecology Department, Fujian Maternity and Child Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics
来源：
Orphanet Journal of Rare Diseases | / 18卷
关键词：
Acylcarnitine profile; GCDH; Glutaric acidemia type 1; Southeastern China; Variant;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [31] Mineralogical and geochemical patterns of mantle xenoliths from the Jixia region (Fujian Province, southeastern China)
    G. S. Zhang
    A. V. Bobrov
    J. S. Long
    W. H. Han
    Geochemistry International, 2016, 54 : 901 - 913
  • [32] Mineralogical and geochemical patterns of mantle xenoliths from the Jixia region (Fujian Province, southeastern China)
    Zhang, G. S.
    Bobrov, A. V.
    Long, J. S.
    Han, W. H.
    GEOCHEMISTRY INTERNATIONAL, 2016, 54 (10) : 901 - 913
  • [33] Identification of Jingmen tick virus (JMTV) in Amblyomma testudinarium from Fujian Province, southeastern China
    Yuli Zhang
    Zhenfeng Li
    Zheng Pang
    Zhen Wu
    Zhijuan Lin
    Guoyu Niu
    Parasites & Vectors, 15
  • [34] Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China
    Wang, Fei
    Han, Lianshu
    Yang, Yanling
    Gu, Xuefan
    Ye, Jun
    Qiu, Wenjuan
    Zhang, Huiwen
    Zhang, Yafen
    Gao, XiaoLan
    Wang, Yu
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S435 - S442
  • [35] Letter to the Editor Based on Article "Analysis of Genotype-Phenotype Correlation in Patients With α-Thalassemia From Fujian Province, Southeastern China"
    Arash, Majid
    JOURNAL OF CLINICAL LABORATORY ANALYSIS, 2024, 38 (23)
  • [36] The first dinosaur track assemblages from the Upper Cretaceous Shaxian Formation, Fujian Province, southeastern China
    Niu, Kecheng
    Xing, Lida
    CRETACEOUS RESEARCH, 2023, 146
  • [37] Biochemical responses and DNA damage in red sea bream from coastal Fujian Province, China
    Gopalakrishnan, Singaram
    Nai, Zhang
    Thilagam, Harikrishnan
    Bei, Chen
    Ding, Jian
    Wang, Xin-Hong
    Wang, Wen-Xiong
    Ke, Cai-Huan
    Giesy, John P.
    Zhang, Xiaowei
    Wang, Ke-Jian
    ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY, 2011, 74 (06) : 1526 - 1535
  • [38] An explanation for metabolite excretion in high- and low-excretor patients with glutaric acidemia type 1
    Goodman, Stephen I.
    Woontner, Michael
    MOLECULAR GENETICS AND METABOLISM, 2019, 127 (04) : 325 - 326
  • [39] MEASUREMENT OF ELECTRON-TRANSFER FLAVOPROTEIN IN FIBROBLASTS FROM PATIENTS WITH GLUTARIC ACIDEMIA TYPE-II
    LOEHR, JP
    FRERMAN, FR
    GOODMAN, SI
    CLINICAL RESEARCH, 1987, 35 (01): : A212 - A212
  • [40] Glutaric aciduria type I: From clinical, biochemical and molecular diversity to successful therapy
    Hoffmann, GF
    Zschocke, J
    JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (04) : 381 - 391
12345