医学
新生儿筛查
儿科
土耳其
泌尿系统
肌张力障碍
内科学
戊二酸
胃肠病学
精神科
哲学
语言学
化学
有机化学
作者
Sebile Kılavuz,Fatma Derya Bulut,Deniz Kör,Berna Şeker Yılmaz,Neslihan Özcan,Faruk İncecik,Bilen Onan,Gülay Ceylaner,Neslihan Önenli Mungan
出处
期刊:Neuropediatrics
[Thieme Medical Publishers (Germany)]
日期:2021-02-12
卷期号:52 (05): 358-369
被引量:5
标识
DOI:10.1055/s-0040-1722691
摘要
All GA-1 patients in our study were severely affected since they were late-diagnosed, while others show that GA-1 is a treatable metabolic disorder if it is diagnosed with NBS. This study provides an essential perspective of the severe impact on GA-1 patients unless it is diagnosed with NBS. We immediately advocate GA-1 to be included in the Turkish NBS.
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