Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

OBJECTIVE: Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS: We revie...

詳細記述

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書誌詳細
出版年:Ann Neurol
主要な著者: Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon‐Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2015
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4767401/
https://ncbi.nlm.nih.gov/pubmed/26179960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24485
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