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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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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Pipitone, Angela, Raval, Donna B., Duis, Jessica, Vernon, Hilary, Martin, Regina, Hamosh, Ada, Valle, David, Gunay-Aygun, Meral
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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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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