Diagnostic exome in neurometabolic disorders

被引：0
|
作者：
Beck-Woedl, S. [1 ,2 ]
Laugwitz, L. [1 ,2 ,3 ]
Buchert, R. [1 ]
Grimmel, M. [1 ]
Sturm, M. [1 ]
Grasshoff, U. [1 ,2 ]
Riess, O. [1 ,2 ]
Haack, T. [1 ,2 ]
机构：
[1] Med Genet & Appl Genom, Tubingen, Germany
[2] Univ Tubingen, Rare Dis Ctr, ZSE, Tubingen, Germany
[3] Univ Tubingen, Childrens Hosp, Pediat Neurol & Dev Med, Tubingen, Germany
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P06.41D
引用
收藏
页码：1350 / 1350
页数：1
相关论文
共 50 条
  • [21] Neurometabolic disorders and dysfunction in autism spectrum disorders
    Nassim Zecavati
    Sarah J. Spence
    Current Neurology and Neuroscience Reports, 2009, 9 : 129 - 136
  • [22] Neurometabolic disorders and dysfunction in autism spectrum disorders
    Zecavati, Nassim
    Spence, Sarah J.
    CURRENT NEUROLOGY AND NEUROSCIENCE REPORTS, 2009, 9 (02) : 129 - 136
  • [23] Movement disorders and neurometabolic diseases
    Grabli, D.
    Aare, K.
    Raze, E.
    REVUE NEUROLOGIQUE, 2011, 167 (02) : 123 - 134
  • [24] Use of a database in the diagnostic and management approach of neurometabolic disorders, with special emphasis on organic acidemias
    GarciaMendez, L
    Ozand, P
    NEUROLOGY, 1996, 46 (02) : 1102 - 1102
  • [25] CLINICS AND THERAPY OF NEUROMETABOLIC DISORDERS
    SPRANGER, J
    NERVENARZT, 1976, 47 (01): : 4 - 11
  • [26] WHOLE EXOME SEQUENCING AS A DIAGNOSTIC TOOL FOR COMPLEX NEUROLOGICAL DISORDERS
    Frederix, G. W.
    Monroe, G.
    Hovels, A. M.
    van Haaften, G.
    VALUE IN HEALTH, 2014, 17 (07) : A396 - A396
  • [27] The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
    Yoshinori Tsurusaki
    Yasuko Kobayashi
    Masataka Hisano
    Shuichi Ito
    Hiroshi Doi
    Mitsuko Nakashima
    Hirotomo Saitsu
    Naomichi Matsumoto
    Noriko Miyake
    Journal of Human Genetics, 2013, 58 : 113 - 115
  • [28] Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing
    Chen, Pin-Shiuan
    Chao, Chi-Chao
    Tsai, Li-Kai
    Huang, Hsin-Yi
    Chien, Yin-Hsiu
    Huang, Pei-Hsin
    Hwu, Wuh-Liang
    Hsieh, Sung-Tsang
    Lee, Ni-Chung
    Hsueh, Hsueh-Wen
    Yang, Chih-Chao
    JOURNAL OF NEUROMUSCULAR DISEASES, 2023, 10 (04) : 667 - 684
  • [29] The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
    Tsurusaki, Yoshinori
    Kobayashi, Yasuko
    Hisano, Masataka
    Ito, Shuichi
    Doi, Hiroshi
    Nakashima, Mitsuko
    Saitsu, Hirotomo
    Matsumoto, Naomichi
    Miyake, Noriko
    JOURNAL OF HUMAN GENETICS, 2013, 58 (02) : 113 - 115
  • [30] Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders
    Hammer, M. B.
    Eleuch-Fayache, G.
    Gibbs, J. R.
    Arepalli, S. K.
    Chong, S. B.
    Sassi, C.
    Bouhlal, Y.
    Hentati, F.
    Amouri, R.
    Singleton, A. B.
    EUROPEAN JOURNAL OF NEUROLOGY, 2013, 20 (03) : 486 - 492
12345