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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Bibliographic Details
Main Authors: Jessica Scott Schwoerer, Sandra van Calcar, Gregory M. Rice, James Deline
Format: Article
Language:English
Published: Elsevier 2016-09-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300362