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
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
  • [1] Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China
    Zhou, Jinfu
    Li, Guilin
    Deng, Lin
    Zhao, Peiran
    Zeng, Yinglin
    Qiu, Xiaolong
    Luo, Jinying
    Xu, Liangpu
    ORPHANET JOURNAL OF RARE DISEASES, 2023, 18 (01)
  • [2] Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
    Lin, Yiming
    Wang, Wenjun
    Lin, Chunmei
    Zheng, Zhenzhu
    Fu, Qingliu
    Peng, Weilin
    Chen, Dongmei
    ORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)
  • [3] Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
    Yiming Lin
    Wenjun Wang
    Chunmei Lin
    Zhenzhu Zheng
    Qingliu Fu
    Weilin Peng
    Dongmei Chen
    Orphanet Journal of Rare Diseases, 16
  • [4] Biochemical and molecular features of tetrahydrobiopterin deficiency in Fujian Province, southeastern China
    Qiu, Xiaolong
    Zhao, Peiran
    Luo, Jinying
    Li, Guilin
    Deng, Lin
    Zeng, Yinglin
    Xu, Liangpu
    Zhou, Jinfu
    FRONTIERS IN GENETICS, 2023, 14
  • [5] Biochemical, molecular, and clinical features of patients with glutaric acidemia type 1 identified through large-scale newborn screening in Zhejiang Province, China
    Lin, Yiming
    Zhu, Xiaochun
    Zhang, Chao
    Yin, Xiaoshan
    Miao, Haixia
    Hu, Zhenzhen
    Yang, Jianbin
    Wu, Benqing
    Huang, Xinwen
    CLINICA CHIMICA ACTA, 2022, 530 : 113 - 118
  • [6] Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
    Hatem Zayed
    Hamed El Khayat
    Hoda Tomoum
    Ola Khalifa
    Ehab Siddiq
    Shaimaa A. Mohammad
    Radwa Gamal
    Zumin Shi
    Ahmed Mosailhy
    Osama K. Zaki
    Metabolic Brain Disease, 2019, 34 : 1231 - 1241
  • [7] Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
    Zayed, Hatem
    El Khayat, Hamed
    Tomoum, Hoda
    Khalifa, Ola
    Siddiq, Ehab
    Mohammad, Shaimaa A.
    Gamal, Radwa
    Shi, Zumin
    Mosailhy, Ahmed
    Zaki, Osama K.
    METABOLIC BRAIN DISEASE, 2019, 34 (04) : 1231 - 1241
  • [8] Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort
    Funk, CBR
    Prasad, AN
    Frosk, P
    Sauer, S
    Kölker, S
    Greenberg, CR
    Del Bigio, MR
    BRAIN, 2005, 128 : 711 - 722
  • [9] MOLECULAR SPECTRUM OF β-THALASSEMIA IN FUJIAN PROVINCE, SOUTHEASTERN CHINA
    Huang, Hailong
    Xu, Liangpu
    Lin, Na
    He, Deqin
    Li, Yin
    Guo, Danhua
    Wang, Linshuo
    Wang, Yan
    Zhen, Lin
    Xu, Jinbang
    Lin, Yuan
    HEMOGLOBIN, 2013, 37 (04) : 343 - 350
  • [10] Glutaric acidemia type 1: Clinical and biochemical profile in Tunisian infants
    Esseghir, N.
    Tebib, N.
    Menif, O.
    Sanhaji, H.
    Elasmi, M.
    Feki, M.
    Ben Dridi, M. F.
    Mebazaa, A.
    Kaabachi, N.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 37 - 37