GLUT1 deficiency: progress in unraveling its genetic basis

被引：0
|
作者：
Van Karnebeek, Clara D. M. [1 ]
机构：
[1] Univ British Columbia, BC Childrens Hosp, Ctr Mol Med & Therapeut, Dept Pediat, Vancouver, BC, Canada
来源：
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY | 2016年 / 58卷 / 12期
关键词：
D O I：
10.1111/dmcn.13220
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
This commentry is on the original article by Liu et al. on pages 1295-1302 of this issue.
引用
收藏
页码：1210 / 1211
页数：2
相关论文
共 50 条
  • [21] Glut1 Deficiency: Inheritance Pattern Determined by Haploinsufficiency
    Rotstein, Michael
    Engelstad, Kristin
    Yang, Hong
    Wang, Dong
    Levy, Brynn
    Chung, Wendy K.
    De Vivo, Darryl C.
    ANNALS OF NEUROLOGY, 2010, 68 (06) : 955 - 958
  • [22] Food for thought - a case of Glut1 deficiency syndrome
    Chalmers, Iain
    Rahim, Mona
    Findlay, Christine
    Zuberi, Sameer
    O'Regan, Mary
    Reavey, Eleanor
    Cochrane, Barbara
    SCOTTISH MEDICAL JOURNAL, 2015, 60 (01) : E36 - E36
  • [23] Delayed diagnosis of atypical mild GLUT1 deficiency
    Ballhausen, D.
    Kallay, C.
    Cronel-Ohayon, S.
    Maeder-Ingvar, M.
    Roulet-Perez, E.
    Bonafe, L.
    JOURNAL OF INHERITED METABOLIC DISEASE, 2007, 30 : 57 - 57
  • [24] Glut1 Deficiency Syndrome and Novel Ketogenic Diets
    Klepper, Joerg
    Leiendecker, Baerbel
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (08) : 1045 - 1048
  • [25] GLUT1 and COVID-19 deficiency syndrome
    Arrieta Blanco, Francisco
    Belanger Quintana, Amaya
    Bengoa Rojano, Nuria
    Stanescu, Sinziana
    MartinezPardo, Mercedes
    ENDOCRINOLOGIA DIABETES Y NUTRICION, 2021, 68 (07): : 514 - 515
  • [26] GLUT1 deficiency syndrome mimicking of Sandifer syndrome
    Komarova, Irina
    Lukyanova, Ekaterina
    JOURNAL OF THE NEUROLOGICAL SCIENCES, 2023, 455
  • [27] Longstanding Paroxysmal Dyskinesia in GLUT1 Deficiency Syndrome
    Coleman, Juliana
    Dean, Marissa
    MOVEMENT DISORDERS CLINICAL PRACTICE, 2020, 7 : S96 - S98
  • [28] Paroxysmal movement disorders in GLUT1 deficiency syndrome
    Zorzi, G.
    Castellotti, B.
    Zibordi, F.
    Gellera, C.
    Nardocci, N.
    NEUROLOGY, 2008, 71 (02) : 146 - 148
  • [29] Imaging the metabolic footprint of Glut1 deficiency on the brain
    Pascual, JM
    van Heertum, RL
    Wang, D
    Engelstad, K
    De Vivo, DC
    ANNALS OF NEUROLOGY, 2002, 52 (04) : 458 - 464
  • [30] An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice
    Tang, Maoxue
    Park, Sarah H.
    Petri, Sabrina
    Yu, Hang
    Rueda, Carlos B.
    Abel, E. Dale
    Kim, Carla Y.
    Hillman, Elizabeth M. C.
    Li, Fanghua
    Lee, Yeojin
    Ding, Lei
    Jagadish, Smitha
    Frankel, Wayne N.
    De Vivo, Darryl C.
    Monani, Umrao R.
    JCI INSIGHT, 2021, 6 (03)
12345