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Updated: Jan 18, 2026

Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane
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Functional Characterization of Na+/H+ Exchangers of Intracellular Compartments Using Proton-killing Selection to Express Them at the Plasma Membrane

Published on: March 30, 2015

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兰道·克莱夫纳综合征的临床和分子遗传特征:观察性队列和实验性研究

Adeline Ngoh1,2, Maria Clark3, Rebecca Greenaway4

  • 1Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, Zayed Centre for Research into Rare Disease in Children, London, UK.

Annals of neurology
|September 13, 2025
PubMed
概括

兰道-克莱夫纳综合征 (LKS) 管理需要早期干预,以获得更好的结果,因为尽管EEG相关性不清楚,但类固醇治疗可以改善语言. 基因分析为针对性治疗提供了洞察力.

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