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  • 标题:Long-term outcomes in Amish patients diagnosed with propionic acidemia
  • 本地全文:下载
  • 作者:Jessica Scott Schwoerer ; Sarah Clowes Candadai ; Patrice K. Held
  • 期刊名称:Molecular Genetics and Metabolism Reports
  • 印刷版ISSN:2214-4269
  • 出版年度:2018
  • 卷号:16
  • 页码:36-38
  • DOI:10.1016/j.ymgmr.2018.05.004
  • 出版社:Elsevier B.V.
  • 摘要:

    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.

  • 关键词:Newborn screening ; Propionic acidemia ; Amish
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