Natural history of propionic acidemia in the Amish population

Natural history of propionic acidemia in the Amish population

Propionic acidemia (PA) in the Amish is caused by a homozygous pathogenic variant (c.1606A>G; p.Asn536Asp) in the PCCB gene. Amish patients can have borderline or normal newborn screening (NBS) results and symptoms can present at any time from early childhood to mid-adulthood. Early diagnosis and...

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Bibliographic Details
Main Authors: Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Propionic Acidemia
Amish
Newborn screen
Treatment
Cardiomyopathy
Seizures
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000969

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http://www.sciencedirect.com/science/article/pii/S2214426922000969

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