Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Cited by 34 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature;Molecular Genetics and Metabolism Reports;2023-03
2. Uremic encephalopathy;Kidney International;2022-02
3. Homozygous Novel Variants in the Glycine Decarboxylase Gene Associated with Nonketotic Hyperglycinemia in a Distinct Population;Journal of Pediatric Genetics;2021-06-11
4. Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia;Scientific Reports;2021-02-04
5. Glycine decarboxylase deficiency–induced motor dysfunction in zebrafish is rescued by counterbalancing glycine synaptic level;JCI Insight;2018-11-02
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