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...
Main Authors: | Jessica Scott Schwoerer, Sarah Clowes Candadai, Patrice K. Held |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2018-09-01
|
Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426918300296 |
Similar Items
-
Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community
by: Jessica Scott Schwoerer, et al.
Published: (2016-09-01) -
Screening for Methylmalonic and Propionic Acidemia: Clinical Outcomes and Follow-Up Recommendations
by: Patrice K. Held, et al.
Published: (2022-02-01) -
Natural history of propionic acidemia in the Amish population
by: Sarah Ehrenberg, et al.
Published: (2022-12-01) -
Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant
by: William B. Hannah, et al.
Published: (2019-12-01) -
Prevalence of propionic acidemia in China
by: Yixing Zhang, et al.
Published: (2023-09-01)