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The First Korean Case of MAN1B1-Congenital Disorder of Glycosylation Diagnosed Using Whole-exome Sequencing and Matrix-assisted Laser Desorption Ionization Time-of-flight Mass Spectrometry.
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2024-11-07 , DOI: 10.3343/alm.2024.0226 Kyoung Bo Kim,Gi Su Lee,Soyoung Shin,Dong-Chan Kim,Donggun Seo,Hyeongjin Kweon,Hyein Kang,Sunggyun Park,Do-Hoon Kim,Namhee Ryoo,Soyoung Lee,Jung Sook Ha
中文翻译：
韩国首例使用全外显子组测序和基质辅助激光解吸电离飞行时间质谱法诊断的 MAN1B1 先天性糖基化疾病病例。
更新日期：2024-11-07
Annals of Laboratory Medicine ( IF 4.0 ) Pub Date : 2024-11-07 , DOI: 10.3343/alm.2024.0226 Kyoung Bo Kim,Gi Su Lee,Soyoung Shin,Dong-Chan Kim,Donggun Seo,Hyeongjin Kweon,Hyein Kang,Sunggyun Park,Do-Hoon Kim,Namhee Ryoo,Soyoung Lee,Jung Sook Ha
中文翻译：
韩国首例使用全外显子组测序和基质辅助激光解吸电离飞行时间质谱法诊断的 MAN1B1 先天性糖基化疾病病例。
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