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3-Hydroxy-3-methylglutaric aciduria with bilateral basal ganglia lesion: A case report

3-Hydroxy-3-methylglutaric aciduria (3-HMG, OMIN 246450) is a rare autosomal recessive metabolic disorder caused by a deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase, a key enzyme in leucine metabolism and ketone body synthesis. Acute episodes of 3-HMG may be triggered by fasting or infection, an...

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Bibliografske podrobnosti
izdano v:Exp Ther Med
Main Authors: HAO, XIAOSHENG, WANG, JIANGTAO, LIU, SONGYAN, CHEN, YINBO, ZHANG, YAN, HAO, YUNPENG
Format: Artigo
Jezik:Inglês
Izdano: D.A. Spandidos 2016
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4887778/
https://ncbi.nlm.nih.gov/pubmed/27284350
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2016.3243
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