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The Management of Pregnancy and Delivery in 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated. The patient is a 28-year-old female with HMG-CoA lyase defic...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5702463/ https://ncbi.nlm.nih.gov/pubmed/26997609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37620 |
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