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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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| Publicado no: | Exp Ther Med |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
D.A. Spandidos
2016
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| Assuntos: | |
| Acesso em linha: | 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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