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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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
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author Scott Schwoerer, Jessica
Clowes Candadai, Sarah
Held, Patrice K.
author_facet Scott Schwoerer, Jessica
Clowes Candadai, Sarah
Held, Patrice K.
author_sort Scott Schwoerer, Jessica
collection PubMed
description 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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spelling pubmed-60197572018-07-16 Long-term outcomes in Amish patients diagnosed with propionic acidemia Scott Schwoerer, Jessica Clowes Candadai, Sarah Held, Patrice K. Mol Genet Metab Rep Short Communication 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. Elsevier 2018-06-22 /pmc/articles/PMC6019757/ /pubmed/30013935 http://dx.doi.org/10.1016/j.ymgmr.2018.05.004 Text en © 2018 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Short Communication
Scott Schwoerer, Jessica
Clowes Candadai, Sarah
Held, Patrice K.
Long-term outcomes in Amish patients diagnosed with propionic acidemia
title Long-term outcomes in Amish patients diagnosed with propionic acidemia
title_full Long-term outcomes in Amish patients diagnosed with propionic acidemia
title_fullStr Long-term outcomes in Amish patients diagnosed with propionic acidemia
title_full_unstemmed Long-term outcomes in Amish patients diagnosed with propionic acidemia
title_short Long-term outcomes in Amish patients diagnosed with propionic acidemia
title_sort long-term outcomes in amish patients diagnosed with propionic acidemia
topic Short Communication
url 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
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