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Molecular basis of dimethylglycine dehydrogenase deficiency associated with pathogenic variant H109R

Dimethylglycine dehydrogenase (DMGDH) is a mitochondrial matrix flavoprotein that catalyses the demethylation of dimethylglycine to form sarcosine, accompanied by the reduction of the covalently bound FAD cofactor. Electron-transfer flavoprotein reoxidizes the reduced flavin and transfers reducing e...

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Detalhes bibliográficos
Main Authors: McAndrew, R. P., Vockley, J., Kim, J.-J. P.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2828353/
https://ncbi.nlm.nih.gov/pubmed/18937046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-008-0999-2
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