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
  • [41] One new genus and four new species of Phyllocoptinae (Acari: Eriophyoidea) from Fujian Province, southeastern China
    Song, Zi-Wei
    Xue, Xiao-Feng
    Hong, Xiao-Yue
    ZOOTAXA, 2008, (1894) : 42 - 52
  • [42] Melt-Lithosphere Interaction Controlled Compositional Variations in Mafic Dikes from Fujian Province,Southeastern China
    Zhuliang Lei
    Gang Zeng
    Jianqiang Liu
    Xiaojun Wang
    Lihui Chen
    Xiaoyu Zhang
    Jinhua Shi
    Journal of Earth Science, 2021, 32 (06) : 1445 - 1453
  • [43] Melt-Lithosphere Interaction Controlled Compositional Variations in Mafic Dikes from Fujian Province,Southeastern China
    Zhuliang Lei
    Gang Zeng
    Jianqiang Liu
    Xiaojun Wang
    Lihui Chen
    Xiaoyu Zhang
    Jinhua Shi
    Journal of Earth Science, 2021, (06) : 1445 - 1453
  • [44] Melt-Lithosphere Interaction Controlled Compositional Variations in Mafic Dikes from Fujian Province, Southeastern China
    Zhuliang Lei
    Gang Zeng
    Jianqiang Liu
    Xiaojun Wang
    Lihui Chen
    Xiaoyu Zhang
    Jinhua Shi
    Journal of Earth Science, 2021, 32 : 1445 - 1453
  • [45] Melt-Lithosphere Interaction Controlled Compositional Variations in Mafic Dikes from Fujian Province, Southeastern China
    Lei, Zhuliang
    Zeng, Gang
    Liu, Jianqiang
    Wang, Xiaojun
    Chen, Lihui
    Zhang, Xiaoyu
    Shi, Jinhua
    JOURNAL OF EARTH SCIENCE, 2021, 32 (06) : 1445 - 1453
  • [46] Glutaric aciduria type I.: Clinical, biochemical and molecular findings in six patients in Venezuela
    Mahfoud, A.
    Dominguez, C. L.
    Rizzo, C.
    Garcia-Villoria, J.
    Navarro-Sastre, A.
    Ribes, A.
    REVISTA DE NEUROLOGIA, 2007, 44 (10) : 610 - 615
  • [47] Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1
    Wang, Qiao
    Li, Xiyuan
    Ding, Yuan
    Liu, Yupeng
    Song, Jinqing
    Yang, Yanling
    BRAIN & DEVELOPMENT, 2014, 36 (09): : 813 - 822
  • [48] Characterization of phenylalanine hydroxylase gene variants and analysis of genotype–phenotype correlation in patients with phenylalanine hydroxylase deficiency from Fujian Province, Southeastern China
    Jinfu Zhou
    Yinglin Zeng
    Xiaolong Qiu
    Qingying Lin
    Weifeng Chen
    Jinying Luo
    Liangpu Xu
    Molecular Biology Reports, 2022, 49 : 10409 - 10419
  • [49] Genetic polymorphisms of the IFNλ genes are associated with biochemical features in Han Chinese with HCV infection from Yunnan Province, China
    Zhang, A-Mei
    Ma, Ke
    Song, Yuzhu
    Wang, Binghui
    Feng, Yue
    Liu, Li
    Xia, Xueshan
    INFECTION GENETICS AND EVOLUTION, 2014, 21 : 161 - 165
  • [50] Morphological traits and molecular analysis for two new Chrysosporium species from Fujian Province, China
    Li, Zhong
    Zhang, Yan-Wei
    Chen, Wan-Hao
    Han, Yan-Feng
    PHYTOTAXA, 2019, 400 (05) : 257 - 264
12345