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Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community()

Propionic acidemia (PA) is an inborn error of protein metabolism with a variable clinical presentation ranging from neonatal encephalopathy to seemingly asymptomatic individuals who present with cardiomyopathy or sudden death. PA is recognized in the Amish population, often with an early asymptomati...

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Publicado en:Mol Genet Metab Rep
Autores principales: Scott Schwoerer, Jessica, van Calcar, Sandra, Rice, Gregory M., Deline, James
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5471548/
https://ncbi.nlm.nih.gov/pubmed/28649556
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.05.003
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