葡萄糖转运体1缺陷综合征1例

Chinese Journal of Child Health Care ›› 2019, Vol. 27 ›› Issue (9) : 1039-1040.

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Chinese Journal of Child Health Care ›› 2019, Vol. 27 ›› Issue (9) : 1039-1040. DOI: 10.11852/zgetbjzz2018-1253

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[1] Di LV, Licchetta L, Pippucci T, et al. Phenotype variability of GLUT1 deficiency syndrome:Description of a case series with novel SLC2A1 gene mutations[J]. Epilepsy Behav, 2018, 79:169-173.
[2] 姬辛娜,徐翠娟,高志杰,等.葡萄糖转运子1缺陷综合征运动障碍特点和诊疗分析[J].中国当代儿科杂志,2018,20(3):209-213.
[3] Benarroch EE. Brain glucose transporters:implications for neurologic disease[J].Neurology, 2014, 82(15):1374-1379.
[4] Szczepanik E, Terczyńska I, Kruk M, et al. Glucose transporter type 1 deficiency due to SLC2A1 gene mutations-a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review[J]. Dev Period Med, 2015, 19(4):454-463
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