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Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

Glycine decarboxylase (GLDC) acts in the glycine cleavage system to decarboxylate glycine and transfer a one-carbon unit into folate one-carbon metabolism. GLDC mutations cause a rare recessive disease non-ketotic hyperglycinemia (NKH). Mutations have also been identified in patients with neural tub...

詳細記述

保存先:
書誌詳細
出版年:Nat Commun
主要な著者: Pai, Yun Jin, Leung, Kit-Yi, Savery, Dawn, Hutchin, Tim, Prunty, Helen, Heales, Simon, Brosnan, Margaret E., Brosnan, John T., Copp, Andrew J., Greene, Nicholas D.E.
フォーマット: Artigo
言語:Inglês
出版事項: Nature Pub. Group 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4366506/
https://ncbi.nlm.nih.gov/pubmed/25736695
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms7388
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