Long-term outcomes in Amish patients diagnosed with propionic acidemia

Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with...

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Detalles Bibliográficos
Autores principales: Scott Schwoerer, Jessica, Clowes Candadai, Sarah, Held, Patrice K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019757/
https://www.ncbi.nlm.nih.gov/pubmed/30013935
http://dx.doi.org/10.1016/j.ymgmr.2018.05.004
Descripción
Sumario:Propionic acidemia (PA) occurs at a higher incidence within the Amish; however, sensitivity of newborn screening and its impact on long-term clinical outcomes has not been reported in this population. This study reviewed screening data and health records of 20 Wisconsin Amish patients diagnosed with PA. Newborn screening did not identify all cases; however, early detection did offer appreciable long-term protection from neurological sequelae. This is the first report summarizing PA cases within the Amish.

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