Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Patients with nonketotic hyperglycinemia and deficient glycine cleavage enzyme activity, but without mutations in AMT, GLDC or GCSH, the genes encoding its constituent proteins, constitute a clinical group which we call ‘variant nonketotic hyperglycinemia’. We hypothesize that in some patients the a...

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Bibliografiske detaljer
Main Authors: Baker, Peter R., Friederich, Marisa W., Swanson, Michael A., Shaikh, Tamim, Bhattacharya, Kaustuv, Scharer, Gunter H., Aicher, Joseph, Creadon-Swindell, Geralyn, Geiger, Elizabeth, MacLean, Kenneth N., Lee, Wang-Tso, Deshpande, Charu, Freckmann, Mary-Louise, Shih, Ling-Yu, Wasserstein, Melissa, Rasmussen, Malene B., Lund, Allan M., Procopis, Peter, Cameron, Jessie M., Robinson, Brian H., Brown, Garry K., Brown, Ruth M., Compton, Alison G., Dieckmann, Carol L., Collard, Renata, Coughlin, Curtis R., Spector, Elaine, Wempe, Michael F., Van Hove, Johan L.K.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2014
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Original Articles
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3914472/
https://ncbi.nlm.nih.gov/pubmed/24334290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awt328
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