X-linked adrenoleukodystrophy in Argentina.: Identification of novel, known mutations and polymorphysms in ABCD1 gene

被引:0
|
作者
Oller, Ramirez A.
Amorosi, C.
Guelbert, N.
Bender, S.
Coll, M. J.
Malamud, H.
Becerra, A. B.
Ghio, A.
Myskova, H.
Dvorakova, L.
Dodelson, Kremer R.
机构
[1] Hosp Ninos, CEMECO, UNCor, Cordoba, Argentina
[2] Inst Bioq Clin, Barcelona, Spain
[3] Inst Inherit Metab Dis, Prague, Czech Republic
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:88 / 88
页数:1
相关论文
共 50 条
  • [21] Role of ALDP (ABCD1) and mitochondria in x-linked adrenoleukodystrophy
    McGuinness, MC
    Lu, JF
    Zhang, HP
    Dong, GA
    Heinzer, AK
    Watkins, PA
    Powers, J
    Smith, KD
    MOLECULAR AND CELLULAR BIOLOGY, 2003, 23 (02) : 744 - 753
  • [22] X-LINKED ADRENOLEUKODYSTROPHY IN SOUTHERN CONE: IDENTIFICATION OF 23 MUTATIONS IN THE ABCD1 GENE IN 24 INDEX CASES AND 83 RELATIVES
    Pereira, F. S.
    Giugliani, R.
    Blank, D.
    Castilhos, R. M.
    Habekost, C. T.
    Vargas, C. R.
    Matte, U. S.
    Jardim, L. B.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2010, 33 : S95 - S95
  • [23] S149R, a novel mutation in the ABCD1 gene causing X-linked adrenoleukodystrophy
    Yan, Fang
    Wang, Wenbo
    Ying, Hui
    Li, Hongyu
    Chen, Jing
    Xu, Chao
    ONCOTARGET, 2017, 8 (50) : 87529 - 87538
  • [24] X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
    Anabel Amorosi, Cyntia
    Myskova, Helena
    Roxana Monti, Mariela
    Enrique Argarana, Carlos
    Morita, Masashi
    Kemp, Stephan
    Dodelson de Kremer, Raquel
    Dvorakova, Lenka
    Oller de Ramirez, Ana Maria
    PLOS ONE, 2012, 7 (12):
  • [25] ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
    Kemp, S
    Pujol, A
    Waterham, HR
    van Geel, BM
    Boehm, CD
    Raymond, GV
    Cutting, GR
    Wanders, RJA
    Hugo, HW
    HUMAN MUTATION, 2001, 18 (06) : 499 - 515
  • [26] A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report
    Mengqi Zhang
    Shupeng Shi
    Haoran Zhang
    Lihui Liu
    Linchao Wu
    Bo Xiao
    Weiping Liu
    Neurological Sciences, 2019, 40 : 1093 - 1096
  • [27] A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report
    Zhang, Mengqi
    Shi, Shupeng
    Zhang, Haoran
    Liu, Lihui
    Wu, Linchao
    Xiao, Bo
    Liu, Weiping
    NEUROLOGICAL SCIENCES, 2019, 40 (05) : 1093 - 1096
  • [28] Central precocious puberty in a boy with X-linked adrenoleukodystrophy caused by a novel ABCD1 mutation
    Zhao, Chaoyue
    Zhu, Hanhong
    Wang, Jie
    Liu, Wenlong
    Xue, Yongzhen
    Hu, Yanyan
    HELIYON, 2024, 10 (07)
  • [29] From gene to therapy: a review of deciphering the role of ABCD1 in combating X-Linked adrenoleukodystrophy
    Zuo, Xinxin
    Chen, Zeyu
    LIPIDS IN HEALTH AND DISEASE, 2024, 23 (01)
  • [30] MUTATION SPECTRUM OF ABCD1 IN 20 VIETNAMESE PATIENTS WITH X-LINKED ADRENOLEUKODYSTROPHY
    Nguyen, Khanh N.
    Dung Chi Vu
    Nguyen, Ha T.
    Bui, Thao P.
    Can, Ngoc T. B.
    Nguyen, Dat P.
    Le, Hai T.
    Vu Anh Hoang
    Nobuyuki, Shimozawa
    HORMONE RESEARCH IN PAEDIATRICS, 2017, 88 : 68 - 68