{"title":"Carrier Rate of Citrullinemia, Type I in Individual Ethnic Groups Using an Expanded Carrier Test","authors":"J. Bardos","doi":"10.33552/WJGWH.2019.02.000531","DOIUrl":null,"url":null,"abstract":"This work is licensed under Creative Commons Attribution 4.0 License WJGWH.MS.ID.000531. Abstract Purpose: To identify population-specific carrier frequencies for Citrullinemia Type 1. Better knowledge of population specific carrier frequencies improves carrier testing and genetic counseling; however, prior reports have not captured data in specific ethnic groups. Identifying a fetus at risk for CTLN1 could allow prenatal planning by arranging for appropriate post-partum care to mitigate or prevent long lasting neurological damage with prompt use of metabolic therapy.","PeriodicalId":87379,"journal":{"name":"World journal of gynecology & womens health","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2019-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"World journal of gynecology & womens health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.33552/WJGWH.2019.02.000531","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 1
Abstract
This work is licensed under Creative Commons Attribution 4.0 License WJGWH.MS.ID.000531. Abstract Purpose: To identify population-specific carrier frequencies for Citrullinemia Type 1. Better knowledge of population specific carrier frequencies improves carrier testing and genetic counseling; however, prior reports have not captured data in specific ethnic groups. Identifying a fetus at risk for CTLN1 could allow prenatal planning by arranging for appropriate post-partum care to mitigate or prevent long lasting neurological damage with prompt use of metabolic therapy.