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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Udgivet i:Mol Genet Metab Rep
Main Authors: Scott Schwoerer, Jessica, Clowes Candadai, Sarah, Held, Patrice K.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2018
Fag:
Short Communication
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6019757/
https://ncbi.nlm.nih.gov/pubmed/30013935
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.05.004
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